CGT Residual risk - United Kingdom

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CGT: Residual risk

This list includes all genes from past and current CGT panels. For genes currently included in CGT panels, please refer to the CGT: Test List

CGT Plus residual risk
CGT Exome residual risk

Gene	Condition	Inheritance	Ethnicity	Carrier Rate	Residual Risk	Patient - & Partner not tested	Patient - & Partner -	Patient - & Partner +	Patient + & Partner not tested	Patient + & Partner -	Patient + & Partner +
AAAS	Triple-A syndrome (achalasia-addisonianism-alacrimia)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 436 1 in 549 1 in 1313 1 in 365 1 in 221	1 in 8,266 1 in 10431 1 in 24947 1 in 6935 1 in 4199	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796	1 in 1744 1 in 2196 1 in 5252 1 in 1460 1 in 884	1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCA12	Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 194 1 in 271 1 in 223 1 in 89 1 in 112	1 in 715 1 in 1003 1 in 825 1 in 329 1 in 414	1 in 554918 <1 in 1,000,000 1 in 735989 1 in 117231 1 in 185651	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 433754 1 in 686909	1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658	1 in 776 1 in 1084 1 in 892 1 in 356 1 in 448	1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCA4	Stargardt disease type 1; Cone-rod dystrophy type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	1 in 119 N/A N/A N/A N/A	1 in 29571 N/A N/A N/A N/A	1 in 56179 N/A N/A N/A N/A	1 in 474 N/A N/A N/A N/A	1 in 250 N/A N/A N/A N/A	1 in 474 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCB11	Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 276 1 in 295 1 in 153 1 in 654 1 in 390	1 in 614 1 in 658 1 in 341 1 in 1459 1 in 870	1 in 678366 1 in 776531 1 in 208880 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 465964 <1 in 1,000,000 <1 in 1,000,000	1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480	1 in 1104 1 in 1180 1 in 612 1 in 2616 1 in 1560	1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCC8	Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 192 1 in 256 1 in 119 1 in 364 1 in 285 1 in 55	1 in 1,690 1 in 2264 1 in 1052 1 in 3219 1 in 2520 1 in 1760	<1 in 1,000,000 <1 in 1,000,000 1 in 500852 <1 in 1,000,000 <1 in 1,000,000 1 in 371712	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040	1 in 768 1 in 1024 1 in 476 1 in 1456 1 in 1140 1 in 211	1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCD1	Adrenoleukodystrophy	X-linked	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 14,000 N/A 1 in 20000 N/A N/A N/A	1 in 28,579 N/A 1 in 40829 N/A N/A N/A	1 in 114316 N/A 1 in 163315 N/A N/A N/A	- - - - - -	- - - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - - -	- - - - - -
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 496 1 in 534 1 in 328 1 in 313 1 in 859	1 in 49,501 1 in 53400 1 in 32800 1 in 31300 1 in 85900	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600	1 in 1984 1 in 2136 1 in 1312 1 in 1252 1 in 3436	1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACAD8	Isobutyryl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACAD9	Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 309 1 in 784 1 in 2252 1 in 810 1 in 741	1 in 576 1 in 1463 1 in 4204 1 in 1512 1 in 1383	1 in 711854 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533	1 in 1236 1 in 3136 1 in 9008 1 in 3240 1 in 2964	1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADM	Medium-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 50 1 in 172 1 in 255 1 in 142 1 in 92 1 in 133	<1 in 488 1 in 1720 1 in 2550 1 in 1420 1 in 920 1 in 13300	1 in 96920 <1 in 1,000,000 <1 in 1,000,000 1 in 806560 1 in 338560 <1 in 1,000,000	1 in 951643 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200	1 in 199 1 in 688 1 in 1020 1 in 568 1 in 368 1 in 532	1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADS	Short-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 102 1 in 52 N/A 1 in 51 1 in 100	1 in 1,015 1 in 520 N/A 1 in 510 1 in 1000	1 in 415474 1 in 108160 N/A 1 in 104040 1 in 400000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000	1 in 409 1 in 208 N/A 1 in 204 1 in 400	1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADSB	Short/branched-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,125 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4500 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4500 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADVL	Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 112 1 in 146 1 in 201 1 in 73 1 in 267	1 in 698 1 in 913 1 in 1256 1 in 456 1 in 1669	1 in 313792 1 in 532900 <1 in 1,000,000 1 in 133225 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 832656 <1 in 1,000,000	1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675	1 in 450 1 in 584 1 in 804 1 in 292 1 in 1068	1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACAT1	Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 1 in 1197 1 in 293 1 in 1378 1 in 173	1 in 769 1 in 1842 1 in 451 1 in 2120 1 in 266	<1 in 1,000,000 <1 in 1,000,000 1 in 528302 <1 in 1,000,000 1 in 184178	<1 in 1,000,000 <1 in 1,000,000 1 in 812772 <1 in 1,000,000 1 in 283351	1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065	1 in 2002 1 in 4788 1 in 1172 1 in 5512 1 in 692	1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACOX1	Peroxisomal acyl-CoA oxidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,394 1 in 1071 N/A 1 in 3848 1 in 3358	1 in 7,180 1 in 3213 N/A 1 in 11544 1 in 10074	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296	1 in 9576 1 in 4284 N/A 1 in 15392 1 in 13432	1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACSF3	Combined malonic and methylmalonic aciduria	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 67 1 in 126 1 in 274 1 in 616 1 in 193	1 in 90 1 in 170 1 in 369 1 in 830 1 in 260	1 in 24108 1 in 85592 1 in 404758 <1 in 1,000,000 1 in 200821	1 in 32369 1 in 115364 1 in 545543 <1 in 1,000,000 1 in 270671	1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041	1 in 268 1 in 504 1 in 1096 1 in 2464 1 in 772	1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADA	Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 390 1 in 91 1 in 1275 1 in 282 1 in 250	1 in 2,335 1 in 546 1 in 7650 1 in 1692 1 in 1500	<1 in 1,000,000 1 in 198744 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000	1 in 1560 1 in 364 1 in 5100 1 in 1128 1 in 1000	1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 2,432 1 in 2434 1 in 631 1 in 3796 1 in 4193 1 in 217	1 in 4,053 1 in 4057 1 in 1052 1 in 6327 1 in 6988 1 in 7107	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430	1 in 9728 1 in 9736 1 in 2524 1 in 15184 1 in 16772 1 in 853	1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADGRG1	Polymicrogyria, bilateral frontoparietal	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,033 1 in 917 1 in 1433 1 in 641 1 in 1525	1 in 3,557 1 in 1605 1 in 2508 1 in 1122 1 in 2669	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675	1 in 8132 1 in 3668 1 in 5732 1 in 2564 1 in 6100	1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADGRV1	Usher syndrome, type 2C	Autosomal recessive, digenic inheritance (PDZD7 gene)	General African/African American East Asian South Asian Latino	1 in 80 1 in 72 1 in 134 1 in 30 1 in 64	1 in 147 1 in 134 1 in 249 1 in 56 1 in 119	1 in 46798 1 in 38510 1 in 133387 1 in 6686 1 in 30427	1 in 86407 1 in 71518 1 in 247720 1 in 12416 1 in 56508	1 in 588 1 in 535 1 in 995 1 in 223 1 in 475	1 in 318 1 in 288 1 in 536 1 in 120 1 in 256	1 in 588 1 in 535 1 in 995 1 in 223 1 in 475	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADK	Hypermethioninemia due to adenosine kinase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,498 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5992 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 5992 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AGA	Aspartylglucosaminuria (glycosylasparaginase deficiency)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 975 1 in 1650 1 in 1724 1 in 2198 1 in 1526	1 in 3,442 1 in 5830 1 in 6091 1 in 7766 1 in 5392	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567	1 in 3900 1 in 6600 1 in 6896 1 in 8792 1 in 6104	1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AGL	Glycogen storage disease, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 259 1 in 191 1 in 549 1 in 510 1 in 470 <1 in 500 1 in 34	1 in 1,083 1 in 801 1 in 2302 1 in 2139 1 in 1971 1 in 167167 1 in 1133	<1 in 1,000,000 1 in 611939 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 154133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533	1 in 1036 1 in 764 1 in 2196 1 in 2040 1 in 1880 1 in 20060 1 in 136	1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AGPS	Rhizomelic chondrodysplasia punctata, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 18,591 1 in 151 1 in 165 1 in 592 1 in 260	<1 in 1,000,000 1 in 15100 1 in 16500 1 in 59200 1 in 26000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000	1 in 74364 1 in 604 1 in 660 1 in 2368 1 in 1040	1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AGXT	Hyperoxaluria, primary, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 174 1 in 326 1 in 134 1 in 247 1 in 416	>1 in 5,758 1 in 10867 1 in 4467 1 in 8233 1 in 13867	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467	1 in 695 1 in 1304 1 in 536 1 in 988 1 in 1664	1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 708 N/A N/A N/A N/A	1 in 2,122 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 8488 N/A N/A N/A N/A	1 in 2832 N/A N/A N/A N/A	1 in 8488 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AHI1	Joubert syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 334 1 in 151 1 in 255 1 in 636 1 in 172	1 in 706 1 in 320 1 in 540 1 in 1347 1 in 364	1 in 943452 1 in 193138 1 in 550800 <1 in 1,000,000 1 in 250594	<1 in 1,000,000 1 in 408998 <1 in 1,000,000 <1 in 1,000,000 1 in 530669	1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457	1 in 1336 1 in 604 1 in 1020 1 in 2544 1 in 688	1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AIPL1	Leber congenital amaurosis, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 160 1 in 101 1 in 1149 1 in 31 1 in 524	1 in 189 1 in 119 1 in 1358 1 in 37 1 in 619	1 in 120902 1 in 48223 <1 in 1,000,000 1 in 4543 <1 in 1,000,000	1 in 142747 1 in 56991 <1 in 1,000,000 1 in 5369 <1 in 1,000,000	1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477	1 in 640 1 in 404 1 in 4596 1 in 124 1 in 2096	1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AIRE	Autoimmune polyendocrinopathy syndrome, type 1	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 209 1 in 437 1 in 313 1 in 979 1 in 422 1 in 500 1 in 27	1 in 1,665 1 in 3496 1 in 2504 1 in 7832 1 in 3376 1 in 1667 1 in 2700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 291600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800	1 in 836 1 in 1748 1 in 1252 1 in 3916 1 in 1688 1 in 2000 1 in 108	1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALDH3A2	Sjogren-Larsson syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 718 1 in 825 1 in 816 1 in 1152 1 in 672	1 in 4,231 1 in 4868 1 in 4814 1 in 6797 1 in 3965	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859	1 in 2872 1 in 3300 1 in 3264 1 in 4608 1 in 2688	1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALDH4A1	Hyperprolinemia, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 49,951 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALDOB	Fructose intolerance, hereditary	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 67 1 in 250 1 in 705 1 in 394 1 in 235	1 in 298 1 in 1127 1 in 3177 1 in 1776 1 in 1059	1 in 79989 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 995606	1 in 356325 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237	1 in 268 1 in 1000 1 in 2820 1 in 1576 1 in 940	1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALG1	Congenital disorder of glycosylation, type 1K	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 87 1 in 65 1 in 121 1 in 57 1 in 90	1 in 130 1 in 98 1 in 182 1 in 86 1 in 135	1 in 45240 1 in 25350 1 in 87846 1 in 19494 1 in 48600	1 in 67600 1 in 38025 1 in 131769 1 in 29241 1 in 72900	1 in 520 1 in 390 1 in 726 1 in 342 1 in 540	1 in 348 1 in 260 1 in 484 1 in 228 1 in 360	1 in 520 1 in 390 1 in 726 1 in 342 1 in 540	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALG6	Congenital disorder of glycosylation, type 1C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 301 1 in 432 1 in 529 1 in 809 1 in 1405	1 in 421 1 in 605 1 in 741 1 in 1133 1 in 1967	1 in 506884 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 708964 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868	1 in 1204 1 in 1728 1 in 2116 1 in 3236 1 in 5620	1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALMS1	Alström syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 168 1 in 202 1 in 107 1 in 256 1 in 352	1 in 488 1 in 589 1 in 312 1 in 747 1 in 1027	1 in 327992 1 in 476047 1 in 133572 1 in 764587 <1 in 1,000,000	1 in 952901 <1 in 1,000,000 1 in 389584 <1 in 1,000,000 <1 in 1,000,000	1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107	1 in 672 1 in 808 1 in 428 1 in 1024 1 in 1408	1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALPL	Hypophosphatasia, infantile/childhood	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 274 1 in 588 1 in 131 1 in 810 1 in 447	1 in 1,348 1 in 2901 1 in 646 1 in 3996 1 in 2205	<1 in 1,000,000 <1 in 1,000,000 1 in 338644 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821	1 in 1096 1 in 2352 1 in 524 1 in 3240 1 in 1788	1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AMT	Glycine encephalopathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 779 1 in 801 1 in 1437 1 in 905 1 in 390	1 in 3,891 1 in 4005 1 in 7185 1 in 4525 1 in 1950	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800	1 in 3116 1 in 3204 1 in 5748 1 in 3620 1 in 1560	1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AP1S2	Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
AQP2	Diabetes insipidus, nephrogenic, type 2	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino	1 in 721 1 in 864 1 in 676 1 in 3078 1 in 458	1 in 1,773 1 in 2127 1 in 1664 1 in 7577 1 in 1127	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510	1 in 2884 1 in 3456 1 in 2704 1 in 12312 1 in 1832	1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AR	Androgen insensitivity syndrome, complete	X-linked	General African/African American East Asian South Asian Latino	1 in 16,639 N/A N/A N/A N/A	1 in 37,670 N/A N/A N/A N/A	1 in 150679 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ARG1	Argininemia (arginase deficiency)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,559 1 in 497 1 in 4596 1 in 7655 1 in 775	1 in 6,745 1 in 1310 1 in 12117 1 in 20181 1 in 2043	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173	1 in 10236 1 in 1988 1 in 18384 1 in 30620 1 in 3100	1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARL13B	Joubert syndrome type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 72 1 in 45 1 in 65 1 in 52 1 in 41	1 in 119 1 in 75 1 in 108 1 in 87 1 in 68	1 in 34368 1 in 13500 1 in 28167 1 in 18027 1 in 11207	1 in 56962 1 in 22500 1 in 46944 1 in 30044 1 in 18678	1 in 477 1 in 300 1 in 433 1 in 347 1 in 273	1 in 288 1 in 180 1 in 260 1 in 208 1 in 164	1 in 477 1 in 300 1 in 433 1 in 347 1 in 273	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARSA	Metachromatic leukodystrophy	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 135 1 in 239 1 in 364 1 in 371 1 in 503 1 in 815 1 in 46	1 in 2,686 1 in 4780 1 in 7280 1 in 7420 1 in 10060 1 in 4060 1 in 1533	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 282133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133	1 in 541 1 in 956 1 in 1456 1 in 1484 1 in 2012 1 in 3248 1 in 184	1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARSB	Mucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 314 1 in 664 1 in 1437 1 in 2198 1 in 4195	1 in 1,023 1 in 2169 1 in 4694 1 in 7180 1 in 13704	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815	1 in 1256 1 in 2656 1 in 5748 1 in 8792 1 in 16780	1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARSL	Chondrodysplasia punctata, brachytelephalangic	X-linked	General African/African American East Asian South Asian Latino	1 in 250,000 N/A N/A N/A N/A	1 in 477,528 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ARX	Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders	X-linked	General African/African American East Asian South Asian Latino	1 in 37,038 N/A N/A N/A N/A	1 in 64,815 N/A N/A N/A N/A	1 in 259261 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ASL	Argininosuccinic aciduria	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 117 1 in 375 1 in 444 1 in 527 1 in 437	1 in 372 1 in 1199 1 in 1420 1 in 1685 1 in 1397	1 in 174063 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 553328 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590	1 in 468 1 in 1500 1 in 1776 1 in 2108 1 in 1748	1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ASNS	Asparagine synthetase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 2,023 1 in 16915 1 in 570 1 in 765 1 in 795 <1 in 500 1 in 80	1 in 2,567 1 in 21469 1 in 723 1 in 971 1 in 1009 1 in 167833 1 in 2667	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 853333	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667	1 in 8092 1 in 67660 1 in 2280 1 in 3060 1 in 3180 1 in 20140 1 in 320	1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ASPA	Canavan disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 486 1 in 741 N/A 1 in 1923 1 in 899 1 in 46	1 in 1,458 1 in 2226 N/A 1 in 5778 1 in 2701 1 in 4768	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 909230	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071	1 in 1944 1 in 2964 N/A 1 in 7692 1 in 3596 1 in 191	1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ASS1	Citrullinemia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 323 1 in 339 1 in 809 1 in 192 1 in 304	1 in 1,124 1 in 1182 1 in 2820 1 in 669 1 in 1060	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 514040 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239	1 in 1292 1 in 1356 1 in 3236 1 in 768 1 in 1216	1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATM	Ataxia-telangiectasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 150 1 in 200 1 in 152 1 in 211 1 in 240 1 in 180	1 in 675 1 in 905 1 in 688 1 in 955 1 in 1086 1 in 18000	1 in 405051 1 in 723849 1 in 418095 1 in 805662 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000	1 in 600 1 in 800 1 in 608 1 in 844 1 in 960 1 in 720	1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATP6V1B1	Renal tubular acidosis with deafness	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,092 1 in 1219 1 in 851 1 in 1017 1 in 742 <1 in 500 1 in 140	1 in 2,401 1 in 2682 1 in 1872 1 in 2237 1 in 1632 1 in 167733 1 in 4667	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667	1 in 4368 1 in 4876 1 in 3404 1 in 4068 1 in 2968 1 in 20128 1 in 560	1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATP7A	Menkes disease; Occipital horn syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 150,000 N/A 1 in 180000 N/A N/A	1 in 501,722 N/A 1 in 602069 N/A N/A	<1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ATP7B	Wilson disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 42 1 in 146 1 in 32 1 in 78 1 in 63 1 in 70	1 in 249 1 in 884 1 in 194 1 in 472 1 in 381 1 in 2333	1 in 41867 1 in 516172 1 in 24796 1 in 147326 1 in 96110 1 in 653333	1 in 248415 <1 in 1,000,000 1 in 150113 1 in 891881 1 in 581834 <1 in 1,000,000	1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333	1 in 168 1 in 584 1 in 128 1 in 312 1 in 252 1 in 280	1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATP8B1	Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 738 1 in 718 1 in 1127 1 in 1679 1 in 1567	1 in 1,803 1 in 1755 1 in 2755 1 in 4104 1 in 3830	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322	1 in 2952 1 in 2872 1 in 4508 1 in 6716 1 in 6268	1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATRX	Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 919,360 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
AUH	3-methylglutaconic aciduria, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 938 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3750 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 3750 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
B4GALT1	Congenital disorder of glycosylation, type 2D	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 50,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS1	Bardet-Biedl syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 152 1 in 243 1 in 1725 1 in 185 1 in 417	1 in 490 1 in 787 1 in 5586 1 in 599 1 in 1350	1 in 297891 1 in 764825 <1 in 1,000,000 1 in 443295 <1 in 1,000,000	1 in 960213 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401	1 in 608 1 in 972 1 in 6900 1 in 740 1 in 1668	1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS10	Bardet-Biedl syndrome, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 237 1 in 470 1 in 428 1 in 425 1 in 1204	1 in 666 1 in 1325 1 in 1206 1 in 1198 1 in 3393	1 in 631454 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572	1 in 948 1 in 1880 1 in 1712 1 in 1700 1 in 4816	1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS12	Bardet-Biedl syndrome, type 12	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 613 1 in 843 1 in 4450 1 in 438 1 in 644	1 in 798 1 in 1098 1 in 5798 1 in 571 1 in 839	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 999914 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357	1 in 2452 1 in 3372 1 in 17800 1 in 1752 1 in 2576	1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS2	Bardet-Biedl syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 333 1 in 741 1 in 148 1 in 855 1 in 1126 1 in 140	1 in 3,255 1 in 7262 1 in 1450 1 in 8379 1 in 11035 1 in 14000	<1 in 1,000,000 <1 in 1,000,000 1 in 858637 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000	1 in 1332 1 in 2964 1 in 592 1 in 3420 1 in 4504 1 in 560	1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BCKDHA	Maple syrup urine disease, type 1A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 555 1 in 478 1 in 869 1 in 1068 1 in 837	1 in 2,317 1 in 1998 1 in 3632 1 in 4464 1 in 3499	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995	1 in 2220 1 in 1912 1 in 3476 1 in 4272 1 in 3348	1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BCKDHB	Maple syrup urine disease, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 306 1 in 608 1 in 666 1 in 1665 1 in 412 1 in 97	1 in 990 1 in 1971 1 in 2159 1 in 5398 1 in 1336 1 in 9736	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944	1 in 1224 1 in 2432 1 in 2664 1 in 6660 1 in 1648 1 in 389	1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BCS1L	BCS1L-related disorders, including Leigh syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 385 1 in 457 1 in 822 1 in 616 1 in 552	1 in 1,230 1 in 1462 1 in 2630 1 in 1971 1 in 1766	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066	1 in 1540 1 in 1828 1 in 3288 1 in 2464 1 in 2208	1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BLM	Bloom syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 358 1 in 532 1 in 337 1 in 636 1 in 495 1 in 119	1 in 35,701 1 in 53200 1 in 33700 1 in 63600 1 in 49500 1 in 4012	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 643838	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048	1 in 1432 1 in 2128 1 in 1348 1 in 2544 1 in 1980 1 in 160	1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BRWD3	Mental retardation, X-linked, type 93	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 65,000 N/A N/A N/A N/A	1 in 259998 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
BSND	Bartter syndrome, type 4A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 916 1 in 186 1 in 687 1 in 733 1 in 2856	1 in 2,014 1 in 409 1 in 1511 1 in 1613 1 in 6283	<1 in 1,000,000 1 in 304445 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 669779 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133	1 in 3664 1 in 744 1 in 2748 1 in 2932 1 in 11424	1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BTD	Biotinidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 120 1 in 52 1 in 324 1 in 7 1 in 136	1 in 477 1 in 208 1 in 1296 1 in 28 1 in 544	1 in 228960 1 in 43264 <1 in 1,000,000 1 in 784 1 in 295936	1 in 910116 1 in 173056 <1 in 1,000,000 1 in 3136 <1 in 1,000,000	1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176	1 in 480 1 in 208 1 in 1296 1 in 28 1 in 544	1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BTK	Agammaglobulinemia X-linked, type 1	X-linked	General African/African American East Asian South Asian Latino	1 in 126,556 N/A N/A N/A N/A	1 in 275,310 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CA2	Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CAPN3	Limb-girdle muscular dystrophy, type 1 (LGMD R1)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 103 1 in 111 1 in 104 1 in 223 1 in 144	1 in 7,498 1 in 8158 1 in 7644 1 in 16391 1 in 10584	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336	1 in 412 1 in 444 1 in 416 1 in 892 1 in 576	1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 51 N/A N/A N/A N/A	1 in 98 N/A N/A N/A N/A	1 in 19924 N/A N/A N/A N/A	1 in 38155 N/A N/A N/A N/A	1 in 391 N/A N/A N/A N/A	1 in 204 N/A N/A N/A N/A	1 in 391 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CBS	Homocystinuria due to cystathionine beta-synthase	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 128 1 in 188 1 in 589 1 in 523 1 in 202	1 in 2,541 1 in 3760 1 in 11780 1 in 10460 1 in 4040	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160	1 in 512 1 in 752 1 in 2356 1 in 2092 1 in 808	1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CCN6	Arthropathy, progressive pseudorheumatoid, of childhood	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 674 1 in 469 1 in 706 1 in 303 1 in 643	1 in 1,796 1 in 1251 1 in 1883 1 in 808 1 in 1715	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 979296 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859	1 in 2696 1 in 1876 1 in 2824 1 in 1212 1 in 2572	1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CD40LG	Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)	X-linked	General African/African American East Asian South Asian Latino	1 in 250,000 N/A N/A N/A N/A	1 in 532,258 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CDH23	Deafness, autosomal recessive, type 12; Usher syndrome, type 1D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 216 1 in 118 1 in 116 1 in 166 1 in 222	1 in 499 1 in 273 1 in 268 1 in 384 1 in 514	1 in 430825 1 in 128914 1 in 124581 1 in 255125 1 in 456292	1 in 994569 1 in 298386 1 in 288357 1 in 590515 <1 in 1,000,000	1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055	1 in 864 1 in 472 1 in 464 1 in 664 1 in 888	1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CEP290	Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 97 1 in 131 1 in 32 1 in 222 1 in 199	1 in 248 1 in 337 1 in 82 1 in 571 1 in 512	1 in 96169 1 in 176513 1 in 10533 1 in 506921 1 in 407325	1 in 245733 1 in 453891 1 in 27084 <1 in 1,000,000 <1 in 1,000,000	1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047	1 in 388 1 in 524 1 in 128 1 in 888 1 in 796	1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CERKL	Retinitis pigmentosa, type 26	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 370 1 in 963 1 in 547 1 in 416 1 in 602 <1 in 500 1 in 24	1 in 515 1 in 1341 1 in 762 1 in 579 1 in 839 1 in 163600 1 in 800	1 in 762147 <1 in 1,000,000 <1 in 1,000,000 1 in 964169 <1 in 1,000,000 <1 in 1,000,000 1 in 76800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200	1 in 1480 1 in 3852 1 in 2188 1 in 1664 1 in 2408 1 in 19632 1 in 96	1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CFTR	Cystic fibrosis	Autosomal recessive	Caucasian/European African/African American Asian Latino Ashkenazi Jewish	1 in 26 1 in 61 1 in 94 1 in 58 1 in 24	1 in 246 1 in 610 1 in 940 1 in 580 1 in 169	1 in 25112 1 in 148840 1 in 353440 1 in 134560 1 in 16255	1 in 242265 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 114684	1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677	1 in 102 1 in 244 1 in 376 1 in 232 1 in 96	1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHAT	Myasthenic syndrome, congenital, type 6, presynaptic	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 121 1 in 209 1 in 318 1 in 321 1 in 30	1 in 134 1 in 231 1 in 351 1 in 355 1 in 33	1 in 64678 1 in 193116 1 in 447075 1 in 455550 1 in 3979	1 in 71430 1 in 213444 1 in 494135 1 in 503502 1 in 4398	1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133	1 in 484 1 in 836 1 in 1272 1 in 1284 1 in 120	1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHM	Choroideremia	X-linked	General African/African American East Asian South Asian Latino	1 in 33,334 1 in 25000 N/A N/A 1 in 25000	1 in 64,000 1 in 48000 N/A N/A 1 in 48000	1 in 256001 1 in 192000 N/A N/A 1 in 192000	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CHRNE	Myasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 244 1 in 300 1 in 299 1 in 312 1 in 366	1 in 491 1 in 605 1 in 603 1 in 629 1 in 738	1 in 479465 1 in 726304 1 in 721470 1 in 785570 <1 in 1,000,000	1 in 965326 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954	1 in 976 1 in 1200 1 in 1196 1 in 1248 1 in 1464	1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHRNG	Multiple pterygium syndrome (MPS), Escobar type; MPS, lethal type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 400 1 in 546 1 in 529 1 in 384 1 in 371	1 in 1,597 1 in 2184 1 in 2116 1 in 1536 1 in 1484	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936	1 in 1600 1 in 2184 1 in 2116 1 in 1536 1 in 1484	1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHST6	Macular corneal dystrophy	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 394 N/A N/A N/A N/A	1 in 125725 N/A N/A N/A N/A	1 in 622315 N/A N/A N/A N/A	1 in 1578 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 1578 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CIITA	Bare lymphocyte syndrome, type 2, complementation group A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 924 1 in 2879 1 in 1002 1 in 2185 1 in 1322	1 in 1,501 1 in 4678 1 in 1628 1 in 3551 1 in 2148	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593	1 in 3696 1 in 11516 1 in 4008 1 in 8740 1 in 5288	1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLCN1	Myotonia congenita, recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 202214 N/A N/A N/A N/A	1 in 406323 N/A N/A N/A N/A	1 in 1275 N/A N/A N/A N/A	1 in 634 N/A N/A N/A N/A	1 in 1275 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLN3	Ceroid lipofuscinosis, neuronal, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 242 1 in 1697 1 in 589 1 in 2552 1 in 1538	1 in 2,090 1 in 14707 1 in 5105 1 in 22117 1 in 13329	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317	1 in 968 1 in 6788 1 in 2356 1 in 10208 1 in 6152	1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLN5	Ceroid lipofuscinosis, neuronal, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 762 1 in 1473 1 in 748 1 in 4827 1 in 794	1 in 3,299 1 in 6383 1 in 3241 1 in 20917 1 in 3441	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763	1 in 3048 1 in 5892 1 in 2992 1 in 19308 1 in 3176	1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLN6	Ceroid lipofuscinosis, neuronal, type 6	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 977 1 in 1528 1 in 909 1 in 733 1 in 698	1 in 2,840 1 in 4445 1 in 2644 1 in 2132 1 in 2031	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122	1 in 3908 1 in 6112 1 in 3636 1 in 2932 1 in 2792	1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLN8	Ceroid lipofuscinosis, neuronal, type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,250 1 in 1107 1 in 1725 1 in 1924 1 in 3358	1 in 2,276 1 in 2016 1 in 3142 1 in 3504 1 in 6116	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465	1 in 5000 1 in 4428 1 in 6900 1 in 7696 1 in 13432	1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLRN1	Usher syndrome, type 3A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 420 1 in 632 1 in 1263 N/A 1 in 1889 1 in 132	1 in 577 1 in 869 1 in 1737 N/A 1 in 2597 1 in 3771	1 in 969570 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084	1 in 1680 1 in 2528 1 in 5052 N/A 1 in 7556 1 in 453	1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CNGA1	Retinitis pigmentosa type 49	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 625 N/A N/A N/A N/A	1 in 1,171 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4684 N/A N/A N/A N/A	1 in 2500 N/A N/A N/A N/A	1 in 4684 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CNGB1	Retinitis pigmentosa type 45	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 867 N/A N/A N/A N/A	1 in 1,614 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6454 N/A N/A N/A N/A	1 in 3468 N/A N/A N/A N/A	1 in 6454 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CNGB3	Achromatopsia, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 87 1 in 50 1 in 208 1 in 18 1 in 90	1 in 1,363 1 in 792 1 in 3293 1 in 285 1 in 1425	1 in 474208 1 in 158333 <1 in 1,000,000 1 in 20520 1 in 513000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 324900 <1 in 1,000,000	1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700	1 in 348 1 in 200 1 in 832 1 in 72 1 in 360	1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL27A1	Steel syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A 1 in 40	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A 1 in 160	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL4A3	Alport syndrome, autosomal recessive, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 218 1 in 329 1 in 241 1 in 361 1 in 195 1 in 190	1 in 352 1 in 532 1 in 390 1 in 584 1 in 315 1 in 6333	1 in 306801 1 in 699996 1 in 375611 1 in 842788 1 in 245908 <1 in 1,000,000	1 in 495153 <1 in 1,000,000 1 in 607270 <1 in 1,000,000 1 in 397573 <1 in 1,000,000	1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331	1 in 872 1 in 1316 1 in 964 1 in 1444 1 in 780 1 in 760	1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL4A4	Alport syndrome, autosomal recessive, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 349 1 in 369 1 in 158 1 in 415 1 in 359	1 in 565 1 in 598 1 in 256 1 in 673 1 in 582	1 in 788969 1 in 882955 1 in 161883 <1 in 1,000,000 1 in 835747	<1 in 1,000,000 <1 in 1,000,000 1 in 262438 <1 in 1,000,000 <1 in 1,000,000	1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328	1 in 1396 1 in 1476 1 in 632 1 in 1660 1 in 1436	1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL4A5	Alport syndrome, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 34,622 N/A N/A N/A N/A	1 in 72,761 N/A N/A N/A N/A	1 in 291042 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
COL7A1	Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibial	Autosomal recessive; Autosomal recessive; Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 100 1 in 199 1 in 262 1 in 95 1 in 190	1 in 243 1 in 487 1 in 641 1 in 232 1 in 465	1 in 97259 1 in 387448 1 in 671598 1 in 88299 1 in 353195	1 in 236485 1 in 947676 <1 in 1,000,000 1 in 215974 1 in 863895	1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859	1 in 400 1 in 796 1 in 1048 1 in 380 1 in 760	1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COLQ	Myasthenic syndrome, congenital, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 805 1 in 674 1 in 653 1 in 992 1 in 1494	1 in 1,420 1 in 1189 1 in 1152 1 in 1751 1 in 2636	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546	1 in 3220 1 in 2696 1 in 2612 1 in 3968 1 in 5976	1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COX15	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 480 1 in 719 1 in 1839 1 in 159 1 in 887	1 in 640 1 in 959 1 in 2452 1 in 212 1 in 1183	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 134832 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 179776 <1 in 1,000,000	1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731	1 in 1920 1 in 2876 1 in 7356 1 in 636 1 in 3548	1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CPS1	Carbamoylphosphate synthetase 1 deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 343 1 in 401 1 in 221 1 in 1026 1 in 740	1 in 817 1 in 957 1 in 528 1 in 2449 1 in 1766	<1 in 1,000,000 <1 in 1,000,000 1 in 466353 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066	1 in 1372 1 in 1604 1 in 884 1 in 4104 1 in 2960	1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CPT1A	Carnitine palmitoyltransferase type 1A deficiency, hepatic	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,518 1 in 2550 1 in 1435 1 in 1924 1 in 2821	1 in 6,638 1 in 11156 1 in 6278 1 in 8418 1 in 12342	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368	1 in 6072 1 in 10200 1 in 5740 1 in 7696 1 in 11284	1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CPT2	Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantile	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 147 1 in 197 1 in 266 1 in 523 1 in 251 1 in 47	1 in 682 1 in 919 1 in 1241 1 in 2439 1 in 1171 1 in 1594	1 in 400955 1 in 723971 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 304805	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375	1 in 588 1 in 788 1 in 1064 1 in 2092 1 in 1004 1 in 191	1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CRB1	Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 158 1 in 116 1 in 187 1 in 531 1 in 263	1 in 203 1 in 149 1 in 241 1 in 684 1 in 339	1 in 128433 1 in 69325 1 in 180160 <1 in 1,000,000 1 in 356359	1 in 165187 1 in 89291 1 in 232046 <1 in 1,000,000 1 in 458990	1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355	1 in 632 1 in 464 1 in 748 1 in 2124 1 in 1052	1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CRTAP	Osteogenesis imperfecta, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,416 1 in 546 1 in 1377 1 in 1059 1 in 1122	1 in 3,539 1 in 1365 1 in 3443 1 in 2648 1 in 2805	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220	1 in 5664 1 in 2184 1 in 5508 1 in 4236 1 in 4488	1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTH	Cystathioninuria	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 7,870 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 31479 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 31479 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTNS	Nephropathic cystinosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 249 1 in 942 1 in 393 1 in 1026 1 in 1696 N/A 1 in 100	1 in 900 1 in 3415 1 in 1425 1 in 3719 1 in 6148 N/A 1 in 1000	1 in 896400 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 400000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000	1 in 996 1 in 3768 1 in 1572 1 in 4104 1 in 6784 N/A 1 in 400	1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTSA	Galactosialidosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 64 1 in 248 1 in 2686 1 in 310 1 in 127	1 in 118 1 in 461 1 in 4988 1 in 576 1 in 236	1 in 30208 1 in 456887 <1 in 1,000,000 1 in 713886 1 in 119815	1 in 55696 1 in 848504 <1 in 1,000,000 <1 in 1,000,000 1 in 222514	1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943	1 in 256 1 in 992 1 in 10744 1 in 1240 1 in 508	1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTSC	Haim-Munk syndrome; Papillon-Lefevre syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 2,496 1 in 2500 N/A N/A 1 in 2500	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 9984 1 in 10000 N/A N/A 1 in 10000	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 9984 1 in 10000 N/A N/A 1 in 10000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTSD	Ceroid lipofuscinosis, neuronal, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,003 1 in 1591 1 in 9179 1 in 1912 1 in 1160	1 in 4,510 1 in 7160 1 in 41306 1 in 8604 1 in 5220	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880	1 in 4012 1 in 6364 1 in 36716 1 in 7648 1 in 4640	1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTSK	Pycnodysostosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,067 1 in 361 1 in 413 1 in 350 1 in 542	1 in 3,910 1 in 1324 1 in 1514 1 in 1283 1 in 1987	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949	1 in 4268 1 in 1444 1 in 1652 1 in 1400 1 in 2168	1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CUL4B	Mental retardation, X-linked, syndromic, type 15 (Cabezas type)	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 636,300 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CYBA	Chronic granulomatous disease, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,689 1 in 806 N/A 1 in 1896 1 in 1933 <1 in 500 1 in 13	1 in 1930 1 in 921 N/A 1 in 2167 1 in 2209 1 in 67167 1 in 65	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 3380	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 16900	1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260	1 in 6756 1 in 3224 N/A 1 in 7584 1 in 7732 1 in 8060 1 in 52	1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYBB	Chronic granulomatous disease, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 100,000 N/A N/A N/A N/A	1 in 250,000 N/A N/A N/A N/A	1 in 999999 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CYP11B1	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 792 1 in 792 1 in 1485 1 in 284 1 in 339	1 in 1,955 1 in 1957 1 in 3669 1 in 702 1 in 838	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 797071 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350	1 in 3168 1 in 3168 1 in 5940 1 in 1136 1 in 1356	1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP11B2	Hypoaldosteronism, congenital, due to CMO I deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 825 1 in 502 1 in 1457 1 in 1917 1 in 945 N/A 1 in 30	1 in 943 1 in 574 1 in 1665 1 in 2191 1 in 1080 N/A 1 in 600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 72000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400	1 in 3300 1 in 2008 1 in 5828 1 in 7668 1 in 3780 N/A 1 in 120	1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP17A1	17 alpha(α)-hydroxylase/17,20-lyase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 560 1 in 2147 1 in 409 1 in 1018 1 in 1313	1 in 679 1 in 2602 1 in 496 1 in 1234 1 in 1592	<1 in 1,000,000 <1 in 1,000,000 1 in 811059 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 983102 <1 in 1,000,000 <1 in 1,000,000	1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366	1 in 2240 1 in 8588 1 in 1636 1 in 4072 1 in 5252	1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP19A1	Aromatase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,159 1 in 671 1 in 559 1 in 905 1 in 1009	1 in 3,532 1 in 1098 1 in 915 1 in 1481 1 in 1651	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604	1 in 8636 1 in 2684 1 in 2236 1 in 3620 1 in 4036	1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP1B1	Glaucoma, primary congenital, type 3A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 196 1 in 246 1 in 339 1 in 325 1 in 1667	1 in 407 1 in 513 1 in 706 1 in 677 1 in 3473	1 in 319284 1 in 504300 1 in 957675 1 in 880208 <1 in 1,000,000	1 in 663410 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892	1 in 784 1 in 984 1 in 1356 1 in 1300 1 in 6668	1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP21A2	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 62 1 in 79 1 in 62 1 in 42-59 1 in 73 1 in 40	1 in 1,228 1 in 439 1 in 620 1 in 500 1 in 730 1 in 500	1 in 306412 1 in 138689 1 in 153760 1 in 100000 1 in 213160 1 in 80000	<1 in 1,000,000 1 in 770494 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 1 in 1000000	1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000	1 in 249 1 in 316 1 in 248 1 in 200 1 in 292 1 in 160	1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP27A1	Cerebrotendinous xanthomatosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 275 1 in 285 1 in 122 1 in 143 1 in 302 1 in 331	1 in 1,113 1 in 1157 1 in 495 1 in 580 1 in 1226 1 in 33100	<1 in 1,000,000 <1 in 1,000,000 1 in 241646 1 in 331996 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 980799 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400	1 in 1100 1 in 1140 1 in 488 1 in 572 1 in 1208 1 in 1324	1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP27B1	Vitamin D-dependent rickets, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DBT	Maple syrup urine disease, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 410 1 in 480 <1 in 500 1 in 280 1 in 480	1 in 40,900 1 in 48000 1 in 50000 1 in 28000 1 in 48000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000	1 in 1640 1 in 1920 1 in 2000 1 in 1120 1 in 1920	1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DCLRE1C	Omenn syndrome; Severe combined immunodeficiency, Athabascan type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 903 1 in 511 1 in 958 1 in 901 1 in 1907	1 in 1,410 1 in 798 1 in 1497 1 in 1408 1 in 2980	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919	1 in 3612 1 in 2044 1 in 3832 1 in 3604 1 in 7628	1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DCX	Lissencephaly, X-linked, type 1	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	1 in 158,748 N/A N/A N/A N/A	1 in 634991 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
DDB2	Xeroderma pigmentosum, complementation group E	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 3,138 1 in 5766 1 in 1533 1 in 15308 1 in 8129	1 in 15,686 1 in 28830 1 in 7665 1 in 76540 1 in 40645	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580	1 in 12552 1 in 23064 1 in 6132 1 in 61232 1 in 32516	1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DHCR7	Smith-Lemli-Opitz syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 70 1 in 51 1 in 357 1 in 334 1 in 118 1 in 38	1 in 1,756 1 in 1275 1 in 8925 1 in 8350 1 in 2950 1 in 1278	1 in 500310 1 in 260100 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 195970	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112	1 in 285 1 in 204 1 in 1428 1 in 1336 1 in 472 1 in 153	1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DHDDS	Retinitis pigmentosa, type 59	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 6,008 1 in 4291 N/A 1 in 6490 1 in 4223 1 in 117	1 in 8,010 1 in 5721 N/A 1 in 8653 1 in 5631 1 in 3900	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600	1 in 24032 1 in 17164 N/A 1 in 25960 1 in 16892 1 in 468	1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DKC1	Dyskeratosis congenita, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 250,000 N/A N/A N/A N/A	1 in 459,999 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
DLD	Dihydrolipoamide dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,506 1 in 500 1 in 2252 1 in 1183 1 in 1684 1 in 100	1 in 14,549 1 in 4833 1 in 21769 1 in 11436 1 in 16279 1 in 2002	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 801274	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006	1 in 6024 1 in 2000 1 in 9008 1 in 4732 1 in 6736 1 in 400	1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DLG3	Mental retardation, X-linked, type 90	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 100,000 N/A N/A N/A N/A	1 in 395995 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
DMD	Duchenne/Becker muscular dystrophy	X-linked	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 2,942 N/A N/A N/A N/A N/A	1 in 58,819 N/A N/A N/A N/A N/A	1 in 235277 N/A N/A N/A N/A N/A	- - - - - -	- - - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - - -	- - - - - -
DNAH5	Ciliary dyskinesia, primary, type 3, with or without situs inversus	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 87 1 in 169 1 in 193 1 in 326 1 in 204 1 in 144	1 in 283 1 in 331 1 in 378 1 in 639 1 in 400 1 in 4567	1 in 58435 1 in 223777 1 in 291848 1 in 832678 1 in 326064 <1 in 1,000,000	1 in 113814 1 in 438326 1 in 571661 <1 in 1,000,000 1 in 638681 <1 in 1,000,000	1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269	1 in 346 1 in 676 1 in 772 1 in 1304 1 in 816 1 in 548	1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DNAI1	Ciliary dyskinesia, primary, type 1, with or without situs inversus	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 323 1 in 434 N/A 1 in 1184 1 in 1140 1 in 366	1 in 556 1 in 747 N/A 1 in 2039 1 in 1963 1 in 36546	1 in 717778 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186	1 in 1292 1 in 1736 N/A 1 in 4736 1 in 4560 1 in 1462	1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DNAI2	Ciliary dyskinesia, primary, type 9, with or without situs inversus	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 758 1 in 414 1 in 1437 1 in 669 1 in 632 1 in 200	1 in 1,248 1 in 682 1 in 2367 1 in 1102 1 in 1041 1 in 20000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000	1 in 3032 1 in 1656 1 in 5748 1 in 2676 1 in 2528 1 in 800	1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DNAJC12	Hyperphenylalaninemia, mild, non-BH4-deficient	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DOK7	Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 262 1 in 178 1 in 255 1 in 193 1 in 255	1 in 719 1 in 490 1 in 701 1 in 531 1 in 701	1 in 753250 1 in 348524 1 in 715275 1 in 409739 1 in 715275	<1 in 1,000,000 1 in 958441 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805	1 in 1048 1 in 712 1 in 1020 1 in 772 1 in 1020	1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DOLK	Congenital disorder of glycosylation, type 1M	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 563 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2252 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 2252 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DPAGT1	Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 808 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3232 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 3232 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DPM1	Congenital disorder of glycosylation, type 1E	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,750 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6997 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 6997 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DPYD	Dihydropyrimidine dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 558 1 in 710 1 in 196 1 in 248 1 in 970	1 in 55,701 1 in 71000 1 in 19600 1 in 24800 1 in 97000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000	1 in 2232 1 in 2840 1 in 784 1 in 992 1 in 3880	1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DUOX2	Thyroid dyshormonogenesis, type 6	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 170 N/A N/A N/A N/A	1 in 54064 N/A N/A N/A N/A	1 in 115077 N/A N/A N/A N/A	1 in 678 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 678 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DUOXA2	Thyroid dyshormonogenesis, type 5	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 144 N/A N/A N/A N/A	1 in 45921 N/A N/A N/A N/A	1 in 83021 N/A N/A N/A N/A	1 in 576 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 576 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DYSF	Miyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 199 1 in 118 1 in 141 1 in 199 1 in 182 N/A 1 in 13	1 in 1,050 1 in 625 1 in 747 1 in 1054 1 in 964 N/A 1 in 433	1 in 835783 1 in 295070 1 in 421308 1 in 839204 1 in 701947 N/A 1 in 22533	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 751111	1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733	1 in 796 1 in 472 1 in 564 1 in 796 1 in 728 N/A 1 in 52	1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EDA	Ectodermal dysplasia, type 1, hypohidrotic, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 5,715 N/A N/A N/A N/A	1 in 10,610 N/A N/A N/A N/A	1 in 42442 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
EDAR	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 131 1 in 65 N/A N/A 1 in 65	1 in 252 1 in 125 N/A N/A 1 in 125	1 in 132544 1 in 32602 N/A N/A 1 in 32602	1 in 254752 1 in 62892 N/A N/A 1 in 62892	1 in 1009 1 in 502 N/A N/A 1 in 502	1 in 525 1 in 260 N/A N/A 1 in 260	1 in 1009 1 in 502 N/A N/A 1 in 502	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EIF2AK3	Wolcott-Rallison syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 2,500 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 9984 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 9984 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EIF2B5	Leukoencephalopathy with vanishing white matter	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 390 1 in 940 1 in 1502 1 in 3078 1 in 458	1 in 974 1 in 2350 1 in 3755 1 in 7695 1 in 1145	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580	1 in 1560 1 in 3760 1 in 6008 1 in 12312 1 in 1832	1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ELP1	Familial dysautonomia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 506 1 in 808 1 in 657 1 in 853 1 in 594 1 in 34	1 in 621 1 in 992 1 in 807 1 in 1047 1 in 729 1 in 2692	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 376923	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769	1 in 2024 1 in 3232 1 in 2628 1 in 3412 1 in 2376 1 in 140	1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EMD	Emery-Dreifuss muscular dystrophy, type 1, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 88,496 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ERCC2	Trichothiodystrophy, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 154 1 in 243 1 in 49 1 in 54 1 in 222	1 in 1,378 1 in 2187 1 in 441 1 in 486 1 in 1998	1 in 848848 <1 in 1,000,000 1 in 86436 1 in 104976 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 777924 1 in 944784 <1 in 1,000,000	1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992	1 in 616 1 in 972 1 in 196 1 in 216 1 in 888	1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC3	Trichothiodystrophy, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 436 1 in 363 1 in 486 1 in 958 1 in 533	1 in 1,306 1 in 1089 1 in 1458 1 in 2874 1 in 1599	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396	1 in 1744 1 in 1452 1 in 1944 1 in 3832 1 in 2132	1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC5	Cerebrooculofacioskeletal syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 970 1 in 909 1 in 703 1 in 279 1 in 878	1 in 96,901 1 in 90900 1 in 70300 1 in 27900 1 in 87800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200	1 in 3880 1 in 3636 1 in 2812 1 in 1116 1 in 3512	1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC6	Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 335 1 in 214 1 in 241 1 in 431 1 in 419	1 in 3,132 1 in 2006 1 in 2259 1 in 4041 1 in 3928	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713	1 in 1340 1 in 856 1 in 964 1 in 1724 1 in 1676	1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC8	Cockayne syndrome, type A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,080 1 in 1557 1 in 1006 1 in 1387 1 in 218	1 in 2,670 1 in 3852 1 in 2489 1 in 3431 1 in 539	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 470237	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157	1 in 4320 1 in 6228 1 in 4024 1 in 5548 1 in 872	1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ESCO2	Roberts syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,395 1 in 671 1 in 950 1 in 1378 1 in 3312	1 in 18,820 1 in 9059 1 in 12825 1 in 18603 1 in 44712	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848	1 in 5580 1 in 2684 1 in 3800 1 in 5512 1 in 13248	1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ETFA	Glutaric acidemia, type 2A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 857 1 in 939 1 in 1246 1 in 1099 1 in 3383	1 in 2,284 1 in 2504 1 in 3323 1 in 2931 1 in 9021	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085	1 in 3428 1 in 3756 1 in 4984 1 in 4396 1 in 13532	1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ETFB	Glutaric acidemia, type 2B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,593 1 in 821 1 in 9195 1 in 1021 1 in 8122	1 in 2,230 1 in 1149 1 in 12873 1 in 1429 1 in 11371	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483	1 in 6372 1 in 3284 1 in 36780 1 in 4084 1 in 32488	1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ETFDH	Glutaric acidemia, type 2C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 336 1 in 343 1 in 89 1 in 733 1 in 586	1 in 615 1 in 629 1 in 163 1 in 1344 1 in 1074	1 in 826784 1 in 862759 1 in 58087 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 106493 <1 in 1,000,000 <1 in 1,000,000	1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297	1 in 1344 1 in 1372 1 in 356 1 in 2932 1 in 2344	1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ETHE1	Ethylmalonic encephalopathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,279 1 in 1897 N/A 1 in 3848 1 in 934	1 in 4,794 1 in 7114 N/A 1 in 14430 1 in 3503	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010	1 in 5116 1 in 7588 N/A 1 in 15392 1 in 3736	1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EVC	Ellis-van Creveld syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 370 1 in 555 1 in 456 1 in 1486 1 in 1199	1 in 739 1 in 1110 1 in 912 1 in 2972 1 in 2398	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592	1 in 1480 1 in 2220 1 in 1824 1 in 5944 1 in 4796	1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EVC2	Ellis-van Creveld syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 240 N/A N/A N/A N/A	1 in 718 N/A N/A N/A N/A	1 in 689280 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2872 N/A N/A N/A N/A	1 in 960 N/A N/A N/A N/A	1 in 2872 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EXOSC3	Pontocerebellar hypoplasia, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 139 1 in 287 1 in 336 1 in 213 1 in 507	1 in 300 1 in 622 1 in 728 1 in 462 1 in 1099	1 in 166800 1 in 713865 1 in 978432 1 in 393198 <1 in 1,000,000	1 in 360000 <1 in 1,000,000 <1 in 1,000,000 1 in 851929 <1 in 1,000,000	1 in 1200 1 in 2487 1 in 2912 1 in 1846 1 in 4394	1 in 556 1 in 1148 1 in 1344 1 in 852 1 in 2028	1 in 1200 1 in 2487 1 in 2912 1 in 1846 1 in 4394	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EYS	Retinitis pigmentosa, type 25	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 82 1 in 71 1 in 53 1 in 168 1 in 152 1 in 109	1 in 139 1 in 121 1 in 91 1 in 287 1 in 260 1 in 3633	1 in 45751 1 in 34474 1 in 19210 1 in 193016 1 in 158002 <1 in 1,000,000	1 in 77823 1 in 58939 1 in 32843 1 in 329995 1 in 270132 <1 in 1,000,000	1 in 558 1 in 486 1 in 362 1 in 1149 1 in 1039 1 in 14533	1 in 328 1 in 284 1 in 212 1 in 672 1 in 608 1 in 436	1 in 558 1 in 486 1 in 362 1 in 1149 1 in 1039 1 in 14533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F11	Factor XI deficiency	Autosomal recessive*	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 500 1 in 500 1 in 94 1 in 217 1 in 500 1 in 12	N/A N/A N/A N/A N/A 1 in 230	N/A N/A N/A N/A N/A 1 in 10580	N/A N/A N/A N/A N/A 1 in 211600	N/A N/A N/A N/A N/A 1 in 920	1 in 720 1 in 2000 1 in 376 1 in 868 1 in 2000 1 in 46	N/A N/A N/A N/A N/A 1 in 920	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F2	Prothrombin deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 415 N/A N/A N/A N/A	1 in 1,325 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5300 N/A N/A N/A N/A	1 in 1659 N/A N/A N/A N/A	1 in 5300 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F5	Factor V deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F8	Hemophilia A	X-linked	General African/African American East Asian South Asian Latino	1 in 4,635 N/A N/A N/A N/A	<1 in 16,550 N/A N/A N/A N/A	1 in 66207 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
F9	Hemophilia B	X-linked	General African/African American East Asian South Asian Latino	1 in 15,000 1 in 20000 N/A N/A 1 in 20000	<1 in 29,000 1 in 38289 N/A N/A 1 in 38289	1 in 114866 1 in 153154 N/A N/A 1 in 153154	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
FAH	Tyrosinemia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 259 1 in 359 N/A 1 in 592 1 in 682 1 in 147	1 in 925 1 in 1285 N/A 1 in 2120 1 in 2442 1 in 4881	1 in 957993 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3699 1 in 5141 N/A 1 in 8478 1 in 9767 1 in 19522	1 in 1036 1 in 1436 N/A 1 in 2368 1 in 2728 1 in 586	1 in 3699 1 in 5141 N/A 1 in 8478 1 in 9767 1 in 19522	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FAM161A	Retinitis pigmentosa, type 28	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 343 1 in 488 1 in 1450 1 in 716 1 in 1104 1 in 214	1 in 856 1 in 1220 1 in 3625 1 in 1790 1 in 2760 1 in 7133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3424 1 in 4880 1 in 14500 1 in 7160 1 in 11040 1 in 28533	1 in 1372 1 in 1952 1 in 5800 1 in 2864 1 in 4416 1 in 856	1 in 3424 1 in 4880 1 in 14500 1 in 7160 1 in 11040 1 in 28533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FAM20C	Raine syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FANCA	Fanconi anemia, complementation group A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 148 1 in 157 1 in 182 1 in 257 1 in 278 1 in 251	1 in 269 1 in 287 1 in 332 1 in 469 1 in 508 1 in 2510	1 in 159484 1 in 180021 1 in 241917 1 in 482380 1 in 564434 <1 in 1,000,000	1 in 290303 1 in 328690 1 in 441702 1 in 880751 <1 in 1,000,000 <1 in 1,000,000	1 in 1078 1 in 1147 1 in 1329 1 in 1877 1 in 2030 1 in 10040	1 in 592 1 in 628 1 in 728 1 in 1028 1 in 1112 1 in 1004	1 in 1078 1 in 1147 1 in 1329 1 in 1877 1 in 2030 1 in 10040	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FANCC	Fanconi anemia, complementation group C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 431 1 in 486 1 in 344 1 in 1025 1 in 1121 1 in 93	1 in 1,514 1 in 1710 1 in 1210 1 in 3606 1 in 3944 1 in 9373	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6056 1 in 6840 1 in 4841 1 in 14426 1 in 15777 1 in 37494	1 in 1724 1 in 1944 1 in 1376 1 in 4100 1 in 4484 1 in 375	1 in 6056 1 in 6840 1 in 4841 1 in 14426 1 in 15777 1 in 37494	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FANCG	Fanconi anemia, complementation group G	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 563 1 in 494 1 in 336 1 in 1278 1 in 1864	1 in 812 1 in 713 1 in 485 1 in 1844 1 in 2689	<1 in 1,000,000 <1 in 1,000,000 1 in 651465 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 939819 <1 in 1,000,000 <1 in 1,000,000	1 in 3247 1 in 2851 1 in 1939 1 in 7375 1 in 10756	1 in 2252 1 in 1976 1 in 1344 1 in 5112 1 in 7456	1 in 3247 1 in 2851 1 in 1939 1 in 7375 1 in 10756	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FGD1	Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16	X-linked	General African/African American East Asian South Asian Latino	1 in 500000 N/A N/A N/A N/A	1 in 937,499 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
FH	Fumarase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 252 1 in 561 N/A 1 in 3511 1 in 801	1 in 1,218 1 in 2720 N/A 1 in 17023 1 in 3884	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 4872 1 in 10880 N/A 1 in 68092 1 in 15535	1 in 1008 1 in 2244 N/A 1 in 14044 1 in 3204	1 in 4872 1 in 10880 N/A 1 in 68092 1 in 15535	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FKRP	Muscular dystrophy-dystroglycanopathy, type 5A (Walker-Warburg syndrome); Type 5B; Type 5C (limb-girdle muscular dystrophy, type 9 [LGMDR9])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 176 1 in 452 1 in 196 1 in 2190 1 in 239	1 in 310 1 in 799 1 in 346 1 in 3869 1 in 422	1 in 218357 <1 in 1,000,000 1 in 271473 <1 in 1,000,000 1 in 403655	1 in 384813 <1 in 1,000,000 1 in 479602 <1 in 1,000,000 1 in 713124	1 in 1241 1 in 3194 1 in 1385 1 in 15476 1 in 1689	1 in 704 1 in 1808 1 in 784 1 in 8760 1 in 956	1 in 1241 1 in 3194 1 in 1385 1 in 15476 1 in 1689	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FKTN	Muscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,023 1 in 736 1 in 288 1 in 854 1 in 382 1 in 131	1 in 5,841 1 in 4206 1 in 1646 1 in 4880 1 in 2183 1 in 377	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 193489	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 569086	1 in 23364 1 in 16823 1 in 6583 1 in 19520 1 in 8731 1 in 1509	1 in 4092 1 in 2944 1 in 1152 1 in 3416 1 in 1528 1 in 513	1 in 23364 1 in 16823 1 in 6583 1 in 19520 1 in 8731 1 in 1509	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FMR1	Fragile X syndrome	X-linked	General African/African American East Asian South Asian Latino Ashkenazi Jewish	>1 in 368 1 in 268 <1 in 500 1 in 172 1 in 206 1 in 84	<1 in 37,000 1 in 26800 1 in 222000 1 in 17200 1 in 20600 1 in 8400	1 in 146972 1 in 107200 1 in 888000 1 in 68800 1 in 82400 1 in 33600	- - - - - -	- - - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - - -	- - - - - -
FOXRED1	Mitochondrial complex I deficiency, nuclear type 19	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 439 1 in 482 1 in 180 1 in 145 1 in 2646	1 in 822 1 in 904 1 in 338 1 in 272 1 in 4961	<1 in 1,000,000 <1 in 1,000,000 1 in 243000 1 in 157688 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 455625 1 in 295664 <1 in 1,000,000	1 in 3289 1 in 3615 1 in 1350 1 in 1088 1 in 19845	1 in 1756 1 in 1928 1 in 720 1 in 580 1 in 10584	1 in 3289 1 in 3615 1 in 1350 1 in 1088 1 in 19845	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FRAS1	Fraser syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 300 1 in 111 1 in 156 1 in 174 1 in 259	1 in 576 1 in 213 1 in 300 1 in 335 1 in 498	1 in 691200 1 in 94777 1 in 187200 1 in 232892 1 in 516008	<1 in 1,000,000 1 in 182263 1 in 360000 1 in 447870 1 in 992322	1 in 2304 1 in 854 1 in 1200 1 in 1338 1 in 1992	1 in 1200 1 in 444 1 in 624 1 in 696 1 in 1036	1 in 2304 1 in 854 1 in 1200 1 in 1338 1 in 1992	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FTCD	Glutamate formiminotransferase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 355 N/A N/A N/A N/A	1 in 591 N/A N/A N/A N/A	1 in 839220 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2364 N/A N/A N/A N/A	1 in 1420 N/A N/A N/A N/A	1 in 2364 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FTSJ1	Mental retardation, X-linked 44	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
FUCA1	Fucosidosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,149 1 in 1233 1 in 2875 1 in 2554 1 in 2032	1 in 4,880 1 in 5240 1 in 12219 1 in 10855 1 in 8636	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 19520 1 in 20961 1 in 48875 1 in 43418 1 in 34544	1 in 4596 1 in 4932 1 in 11500 1 in 10216 1 in 8128	1 in 19520 1 in 20961 1 in 48875 1 in 43418 1 in 34544	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
G6PC	Glycogen storage disease, type 1A	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 212 1 in 830 1 in 116 1 in 5128 1 in 346 1 in 68	1 in 471 1 in 1852 1 in 259 1 in 11439 1 in 772 1 in 3366	1 in 399154 <1 in 1,000,000 1 in 120069 <1 in 1,000,000 <1 in 1,000,000 1 in 906357	1 in 888101 <1 in 1,000,000 1 in 267846 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1885 1 in 7406 1 in 1035 1 in 45758 1 in 3087 1 in 13464	1 in 847 1 in 3320 1 in 464 1 in 20512 1 in 1384 1 in 269	1 in 1885 1 in 7406 1 in 1035 1 in 45758 1 in 3087 1 in 13464	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
G6PC3	Dursun syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,170 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4666 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4666 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
G6PD	Hemolytic anemia, G6PD deficient (favism)	X-linked	General African/African American East Asian South Asian Latino	1 in 25 1 in 5 N/A N/A 1 in 19	<1 in 241 1 in 50 N/A N/A 1 in 190	1 in 964 1 in 200 N/A N/A 1 in 760	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GAA	Glycogen storage disease, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 159 1 in 60 1 in 63 1 in 133 1 in 95 1 in 67	1 in 1,577 1 in 600 1 in 630 1 in 1330 1 in 950 1 in 2193	<1 in 1,000,000 1 in 144000 1 in 158760 1 in 707560 1 in 361000 1 in 577128	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6309 1 in 2400 1 in 2520 1 in 5320 1 in 3800 1 in 8772	1 in 634 1 in 240 1 in 252 1 in 532 1 in 380 1 in 263	1 in 6309 1 in 2400 1 in 2520 1 in 5320 1 in 3800 1 in 8772	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALC	Krabbe disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 67 1 in 119 1 in 40 1 in 35 1 in 181	1 in 120 1 in 215 1 in 72 1 in 63 1 in 327	1 in 32257 1 in 102441 1 in 11574 1 in 8862 1 in 236994	1 in 57948 1 in 185266 1 in 20933 1 in 16026 1 in 428607	1 in 481 1 in 861 1 in 289 1 in 253 1 in 1309	1 in 268 1 in 476 1 in 160 1 in 140 1 in 724	1 in 481 1 in 861 1 in 289 1 in 253 1 in 1309	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALE	Galactose epimerase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,011 1 in 1217 1 in 369 1 in 2541 1 in 2624	1 in 9,381 1 in 5679 1 in 1722 1 in 11858 1 in 12245	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 37524 1 in 22717 1 in 6888 1 in 47432 1 in 48981	1 in 8044 1 in 4868 1 in 1476 1 in 10164 1 in 10496	1 in 37524 1 in 22717 1 in 6888 1 in 47432 1 in 48981	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALK1	Galactokinase deficiency with cataracts	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 747 1 in 388 1 in 723 1 in 400 1 in 663	1 in 1,091 1 in 567 1 in 1057 1 in 585 1 in 969	<1 in 1,000,000 1 in 880103 <1 in 1,000,000 1 in 935385 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4365 1 in 2268 1 in 4227 1 in 2338 1 in 3876	1 in 2988 1 in 1552 1 in 2892 1 in 1600 1 in 2652	1 in 4365 1 in 2268 1 in 4227 1 in 2338 1 in 3876	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALNS	Mucopolysaccharidosis, type 4A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 311 1 in 317 1 in 263 1 in 317 1 in 548	1 in 657 1 in 671 1 in 557 1 in 671 1 in 1160	1 in 817893 1 in 851201 1 in 585902 1 in 851201 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2630 1 in 2685 1 in 2228 1 in 2685 1 in 4642	1 in 1244 1 in 1268 1 in 1052 1 in 1268 1 in 2192	1 in 2630 1 in 2685 1 in 2228 1 in 2685 1 in 4642	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALT	Galactosemia	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 102 1 in 94 1 in 208 1 in 342 1 in 219 1 in 145	1 in 2,021 1 in 1880 1 in 4160 1 in 6840 1 in 4380 1 in 176	1 in 824219 1 in 706880 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 98901	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 123626	1 in 8082 1 in 7520 1 in 16640 1 in 27360 1 in 17520 1 in 703	1 in 408 1 in 376 1 in 832 1 in 1368 1 in 876 1 in 563	1 in 8082 1 in 7520 1 in 16640 1 in 27360 1 in 17520 1 in 703	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GAMT	Cerebral creatine deficiency syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 435 1 in 545 1 in 1150 1 in 2601 1 in 4223	1 in 815 1 in 1022 1 in 2156 1 in 4877 1 in 7918	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3259 1 in 4088 1 in 8625 1 in 19508 1 in 31673	1 in 1740 1 in 2180 1 in 4600 1 in 10404 1 in 16892	1 in 3259 1 in 4088 1 in 8625 1 in 19508 1 in 31673	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GBA	Gaucher disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 105 1 in 35 1 in 220 N/A 1 in 120 1 in 16	1 in 744 1 in 250 1 in 1571 N/A 1 in 857 1 in 284	1 in 312420 1 in 35000 <1 in 1,000,000 N/A 1 in 411429 1 in 17465	<1 in 1,000,000 1 in 250000 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 323417	1 in 2975 1 in 1000 1 in 6286 N/A 1 in 3429 1 in 1137	1 in 420 1 in 140 1 in 880 N/A 1 in 480 1 in 61	1 in 2975 1 in 1000 1 in 6286 N/A 1 in 3429 1 in 1137	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GBE1	Glycogen storage disease, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 192 1 in 523 1 in 1282 1 in 417 1 in 222 1 in 62	1 in 446 1 in 1219 1 in 2987 1 in 972 1 in 517 1 in 3041	1 in 342584 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 459372 1 in 739644	1 in 795925 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1784 1 in 4875 1 in 11949 1 in 3887 1 in 2069 1 in 12163	1 in 768 1 in 2092 1 in 5128 1 in 1668 1 in 888 1 in 243	1 in 1784 1 in 4875 1 in 11949 1 in 3887 1 in 2069 1 in 12163	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GCDH	Glutaricaciduria, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 100 1 in 93 1 in 204 1 in 261 1 in 271	1 in 1,981 1 in 1860 1 in 4080 1 in 5220 1 in 5420	1 in 792400 1 in 691920 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7924 1 in 7440 1 in 16320 1 in 20880 1 in 21680	1 in 400 1 in 372 1 in 816 1 in 1044 1 in 1084	1 in 7924 1 in 7440 1 in 16320 1 in 20880 1 in 21680	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GCH1	Hyperphenylalaninemia, BH4-deficient, type B	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 436 N/A N/A N/A N/A	1 in 436788 N/A N/A N/A N/A	1 in 759324 N/A N/A N/A N/A	1 in 1743 N/A N/A N/A N/A	1 in 1003 N/A N/A N/A N/A	1 in 1743 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GCSH	?Glycine encephalopathy	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GDAP1	Charcot-Marie-Tooth disease, recessive intermediate, type A	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 130 N/A N/A N/A N/A	1 in 298 N/A N/A N/A N/A	1 in 154804 N/A N/A N/A N/A	1 in 354501 N/A N/A N/A N/A	1 in 1191 N/A N/A N/A N/A	1 in 520 N/A N/A N/A N/A	1 in 1191 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GDF5	Chondrodysplasia, Grebe type	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GFM1	Combined oxidative phosphorylation deficiency, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 480 1 in 515 1 in 1113 1 in 769 1 in 1318	1 in 731 1 in 785 1 in 1696 1 in 1172 1 in 2008	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2924 1 in 3139 1 in 6784 1 in 4687 1 in 8034	1 in 1920 1 in 2060 1 in 4452 1 in 3076 1 in 5272	1 in 2924 1 in 3139 1 in 6784 1 in 4687 1 in 8034	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GHRHR	Growth hormone deficiency, isolated, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 50 1 in 50 N/A N/A 1 in 50	1 in 83 1 in 83 N/A N/A 1 in 83	1 in 16533 1 in 16667 N/A N/A 1 in 16667	1 in 27335 1 in 27778 N/A N/A 1 in 27778	1 in 331 1 in 333 N/A N/A 1 in 333	1 in 200 1 in 200 N/A N/A 1 in 200	1 in 331 1 in 333 N/A N/A 1 in 333	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GJB1	Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1	X-linked	General African/African American East Asian South Asian Latino	1 in 15,161 N/A N/A N/A N/A	1 in 44,254 N/A N/A N/A N/A	1 in 177017 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GJB2	Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6	Autosomal recessive; Digenic inheritance (GJB6 gene)	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 40 1 in 37 N/A 1 in 58 1 in 100 1 in 21	1 in 489 1 in 463 N/A 1 in 725 1 in 1250 1 in 2100	1 in 78160 1 in 68450 N/A 1 in 168200 1 in 500000 1 in 176400	1 in 954529 1 in 855625 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1954 1 in 1850 N/A 1 in 2900 1 in 5000 1 in 8400	1 in 160 1 in 148 N/A 1 in 232 1 in 400 1 in 84	1 in 1954 1 in 1850 N/A 1 in 2900 1 in 5000 1 in 8400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GJB6	Deafness, autosomal recessive, type 1B; Deafness, digenic GJB2/GJB6	Autosomal recessive; Digenic inheritance (GJB2 gene)	Caucasian/European African/African American East Asian South Asian Latino	1 in 421 1 in 2161 1 in 214 1 in 1531 1 in 1626	1 in 42,000 1 in 216100 1 in 21400 1 in 153100 1 in 162600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 168004 1 in 864400 1 in 85600 1 in 612400 1 in 650400	1 in 1684 1 in 8644 1 in 856 1 in 6124 1 in 6504	1 in 168004 1 in 864400 1 in 85600 1 in 612400 1 in 650400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GLA	Fabry disease	X-linked	General African/African American East Asian South Asian Latino	1 in 35,031 1 in 50000 N/A N/A 1 in 50000	<1 in 217,000 1 in 309593 N/A N/A 1 in 309593	1 in 867596 <1 in 1,000,000 N/A N/A <1 in 1,000,000	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GLB1	GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 277 1 in 356 1 in 305 1 in 285 1 in 431	1 in 1,320 1 in 1701 1 in 1457 1 in 1362 1 in 2059	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5279 1 in 6804 1 in 5829 1 in 5447 1 in 8237	1 in 1108 1 in 1424 1 in 1220 1 in 1140 1 in 1724	1 in 5279 1 in 6804 1 in 5829 1 in 5447 1 in 8237	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GLDC	Glycine encephalopathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 255 1 in 515 1 in 137 1 in 570 1 in 323	1 in 509 1 in 1030 1 in 274 1 in 1140 1 in 646	1 in 519180 <1 in 1,000,000 1 in 150152 <1 in 1,000,000 1 in 834632	<1 in 1,000,000 <1 in 1,000,000 1 in 300304 <1 in 1,000,000 <1 in 1,000,000	1 in 2036 1 in 4120 1 in 1096 1 in 4560 1 in 2584	1 in 1020 1 in 2060 1 in 548 1 in 2280 1 in 1292	1 in 2036 1 in 4120 1 in 1096 1 in 4560 1 in 2584	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GLE1	Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 453 1 in 1148 1 in 2302 1 in 669 1 in 1201	1 in 582 1 in 1476 1 in 2960 1 in 860 1 in 1544	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2329 1 in 5904 1 in 11839 1 in 3441 1 in 6177	1 in 1812 1 in 4592 1 in 9208 1 in 2676 1 in 4804	1 in 2329 1 in 5904 1 in 11839 1 in 3441 1 in 6177	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNE	Inclusion body myopathy, type 2 (Nonaka myopathy)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 279 1 in 379 1 in 271 1 in 36 1 in 765 <1 in 500	1 in 1,593 1 in 2171 1 in 1552 1 in 206 1 in 4381 1 in 5470	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 29690 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 170044 <1 in 1,000,000 <1 in 1,000,000	1 in 6373 1 in 8683 1 in 6208 1 in 825 1 in 17525 1 in 21880	1 in 1116 1 in 1516 1 in 1084 1 in 144 1 in 3060 1 in 6564	1 in 6373 1 in 8683 1 in 6208 1 in 825 1 in 17525 1 in 21880	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNMT	Glycine N-methyltransferase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 24,951 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 99804 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 99804 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNPTAB	Mucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/beta	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 176 1 in 328 1 in 368 1 in 321 1 in 287	1 in 17,522 1 in 32800 1 in 36800 1 in 32100 1 in 28700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 70090 1 in 131200 1 in 147200 1 in 128400 1 in 114800	1 in 705 1 in 1312 1 in 1472 1 in 1284 1 in 1148	1 in 70090 1 in 131200 1 in 147200 1 in 128400 1 in 114800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNPTG	Mucolipidosis III gamma	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 684 1 in 486 1 in 2133 1 in 1398 1 in 735	1 in 2,232 1 in 1588 1 in 6968 1 in 4567 1 in 2401	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8929 1 in 6350 1 in 27871 1 in 18267 1 in 9604	1 in 2736 1 in 1944 1 in 8532 1 in 5592 1 in 2940	1 in 8929 1 in 6350 1 in 27871 1 in 18267 1 in 9604	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNRHR	Hypogonadotropic hypogonadism, type 7, without anosmia	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 2,097 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 8387 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 8387 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNS	Mucopolysaccharidosis, type 3D (Sanfilippo syndrome D)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,731 1 in 793 1 in 4588 1 in 4145 1 in 4197	1 in 273,001 1 in 79300 1 in 458800 1 in 414500 1 in 419700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1092004 1 in 317200 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10924 1 in 3172 1 in 18352 1 in 16580 1 in 16788	1 in 1092004 1 in 317200 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GP1BA	Bernard-Soulier syndrome, type A1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,677 1 in 2035 1 in 1725 N/A 1 in 4198	1 in 3,074 1 in 3731 1 in 3163 N/A 1 in 7696	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 12295 1 in 14923 1 in 12650 N/A 1 in 30785	1 in 6708 1 in 8140 1 in 6900 N/A 1 in 16792	1 in 12295 1 in 14923 1 in 12650 N/A 1 in 30785	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GP1BB	Bernard-Soulier syndrome, type B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 531 1 in 556 N/A N/A 1 in 556	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2125 1 in 2222 N/A N/A 1 in 2222	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 2125 1 in 2222 N/A N/A 1 in 2222	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GP9	Bernard-Soulier syndrome, type C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 451 1 in 500 N/A 1 in 848 1 in 500	1 in 1,576 1 in 1750 N/A 1 in 2968 1 in 1750	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 6304 1 in 7000 N/A 1 in 11872 1 in 7000	1 in 1804 1 in 2000 N/A 1 in 3392 1 in 2000	1 in 6304 1 in 7000 N/A 1 in 11872 1 in 7000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GPR143	Ocular albinism, type 1 (Nettleship-Falls type)	X-linked	General African/African American East Asian South Asian Latino	1 in 42,858 N/A N/A N/A N/A	<1 in 48,000 N/A N/A N/A N/A	1 in 192079 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GRHPR	Hyperoxaluria, primary, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 433 1 in 605 1 in 681 1 in 327 1 in 1881	1 in 43,201 1 in 60500 1 in 68100 1 in 32700 1 in 188100	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 172804 1 in 242000 1 in 272400 1 in 130800 1 in 752400	1 in 1732 1 in 2420 1 in 2724 1 in 1308 1 in 7524	1 in 172804 1 in 242000 1 in 272400 1 in 130800 1 in 752400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GSS	Glutathione synthetase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 992 1 in 618 1 in 297 1 in 1703 1 in 49	1 in 2,974 1 in 1854 1 in 891 1 in 5109 1 in 147	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 28812	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 86436	1 in 11896 1 in 7416 1 in 3564 1 in 20436 1 in 588	1 in 3968 1 in 2472 1 in 1188 1 in 6812 1 in 196	1 in 11896 1 in 7416 1 in 3564 1 in 20436 1 in 588	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GUCY2D	Leber congenital amaurosis, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 248 N/A N/A N/A N/A	1 in 305 N/A N/A N/A N/A	1 in 302560 N/A N/A N/A N/A	1 in 372100 N/A N/A N/A N/A	1 in 1220 N/A N/A N/A N/A	1 in 992 N/A N/A N/A N/A	1 in 1220 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GUSB	Mucopolysaccharidosis, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 552 1 in 685 1 in 1760 1 in 914 1 in 463	1 in 1,6531 1 in 20550 1 in 52800 1 in 27420 1 in 13890	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 66124 1 in 82200 1 in 211200 1 in 109680 1 in 55560	1 in 2208 1 in 2740 1 in 7040 1 in 3656 1 in 1852	1 in 66124 1 in 82200 1 in 211200 1 in 109680 1 in 55560	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HADH	3-hydroxyacyl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 415 N/A N/A N/A N/A	1 in 622 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2486 N/A N/A N/A N/A	1 in 1659 N/A N/A N/A N/A	1 in 2486 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HADHA	Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 251 1 in 482 1 in 1006 1 in 733 1 in 407	1 in 833 1 in 1607 1 in 3353 1 in 2443 1 in 1357	1 in 834339 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3331 1 in 6427 1 in 13413 1 in 9773 1 in 5427	1 in 1002 1 in 1928 1 in 4024 1 in 2932 1 in 1628	1 in 3331 1 in 6427 1 in 13413 1 in 9773 1 in 5427	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HADHB	Mitochondrial trifunctional protein deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,379 1 in 827 1 in 742 1 in 1033 1 in 1095	1 in 3,008 1 in 1804 1 in 1619 1 in 2254 1 in 2389	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 12030 1 in 7217 1 in 6476 1 in 9015 1 in 9556	1 in 5516 1 in 3308 1 in 2968 1 in 4132 1 in 4380	1 in 12030 1 in 7217 1 in 6476 1 in 9015 1 in 9556	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HAX1	Neutropenia, severe congenital, type 3, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 219 1 in 800 1 in 1263 1 in 5130 1 in 2798	1 in 306 1 in 1120 1 in 1768 1 in 7182 1 in 3917	1 in 267195 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 373584 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1222 1 in 4480 1 in 7073 1 in 28728 1 in 15669	1 in 874 1 in 3200 1 in 5052 1 in 20520 1 in 11192	1 in 1222 1 in 4480 1 in 7073 1 in 28728 1 in 15669	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HBA1	Thalassemia, alpha-	Autosomal recessive	Caucasian/European African/African American Asian Latino Ashkenazi Jewish	1 in 30 1 in 30 1 in 20 N/A N/A	1 in 194 1 in 300 1 in 400 N/A N/A	1 in 23320 1 in 36000 1 in 32000 N/A N/A	1 in 151062 1 in 360000 1 in 640000 N/A N/A	1 in 777 1 in 1200 1 in 1600 N/A N/A	1 in 120 1 in 120 1 in 80 N/A N/A	1 in 777 1 in 1200 1 in 1600 N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HBA2	Thalassemia, alpha-	Autosomal recessive	Caucasian/European African/African American Asian Latino	1 in 30 1 in 30 1 in 20 N/A	1 in 194 1 in 300 1 in 400 N/A	1 in 23320 1 in 36000 1 in 32000 N/A	1 in 151062 1 in 360000 1 in 640000 N/A	1 in 777 1 in 1200 1 in 1600 N/A	1 in 120 1 in 120 1 in 80 N/A	1 in 777 1 in 1200 1 in 1600 N/A	1 in 4 1 in 4 1 in 4 1 in 4
HBB	HBB-related hemoglobinopathy	Autosomal recessive	Caucasian/European African/African American (Sickle cell anemia) East Asian (b-thalassemia) South Asian (b-thalassemia) Latino Ashkenazi Jewish	1 in 67 1 in 11 1 in 87 1 in 25 1 in 128 Varied	1 in 411 1 in 220 1 in 1020 1 in 500 1 in 1280 N/A	1 in 109711 1 in 9680 1 in 208080 1 in 50000 1 in 655360 N/A	1 in 677055 1 in 193600 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 N/A	1 in 1646 1 in 880 1 in 4080 1 in 2000 1 in 5120 N/A	1 in 267 1 in 44 1 in 204 1 in 100 1 in 512 N/A	1 in 1646 1 in 880 1 in 4080 1 in 2000 1 in 5120 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HCFC1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
HEXA	Tay-Sachs disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 90 1 in 216 1 in 210 1 in 416 1 in 243 1 in 26	1 in 743 1 in 1800 1 in 1750 1 in 3467 1 in 2025 1 in 519	1 in 267360 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 53920	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2971 1 in 7200 1 in 7000 1 in 13867 1 in 8100 1 in 2077	1 in 360 1 in 864 1 in 840 1 in 1664 1 in 972 1 in 104	1 in 2971 1 in 7200 1 in 7000 1 in 13867 1 in 8100 1 in 2077	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HEXB	Sandhoff disease, infantile, juvenile, and adult forms	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 202 1 in 895 1 in 385 1 in 513 1 in 248	1 in 743 1 in 3305 1 in 1422 1 in 1894 1 in 916	1 in 600468 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 908367	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2973 1 in 13218 1 in 5686 1 in 7577 1 in 3663	1 in 808 1 in 3580 1 in 1540 1 in 2052 1 in 992	1 in 2973 1 in 13218 1 in 5686 1 in 7577 1 in 3663	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HGD	Alkaptonuria	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 1,708 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6834 N/A N/A N/A N/A	1 in 1000 N/A N/A N/A N/A	1 in 6834 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HGSNAT	Mucopolysaccharidosis type 3C (Sanfilippo syndrome C)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 345 1 in 604 1 in 836 1 in 1483 1 in 922	1 in 809 1 in 1418 1 in 1963 1 in 3482 1 in 2165	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3235 1 in 5672 1 in 7851 1 in 13927 1 in 8659	1 in 1380 1 in 2416 1 in 3344 1 in 5932 1 in 3688	1 in 3235 1 in 5672 1 in 7851 1 in 13927 1 in 8659	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HJV	Hemochromatosis, type 2A	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 1,894 1 in 3456 1 in 2225 1 in 766 1 in 1865	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 7576 1 in 13824 1 in 8900 1 in 3064 1 in 7460	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HLCS	Holocarboxylase synthetase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 703 1 in 570 1 in 342 1 in 1099 1 in 706	1 in 2,185 1 in 1773 1 in 1064 1 in 3419 1 in 2196	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8740 1 in 7093 1 in 4256 1 in 13676 1 in 8786	1 in 2812 1 in 2280 1 in 1368 1 in 4396 1 in 2824	1 in 8740 1 in 7093 1 in 4256 1 in 13676 1 in 8786	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HMGCL	HMG-CoA lyase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 875 1 in 964 1 in 2253 1 in 1283 1 in 1123	1 in 2,623 1 in 2892 1 in 6759 1 in 3849 1 in 3369	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10492 1 in 11568 1 in 27036 1 in 15396 1 in 13476	1 in 3500 1 in 3856 1 in 9012 1 in 5132 1 in 4492	1 in 10492 1 in 11568 1 in 27036 1 in 15396 1 in 13476	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HMOX1	Heme oxygenase-1 deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HOGA1	Hyperoxaluria, primary, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 169 1 in 267 1 in 182 1 in 265 1 in 287 1 in 37	1 in 309 1 in 490 1 in 334 1 in 486 1 in 526 1 in 1233	1 in 208884 1 in 522786 1 in 242909 1 in 514983 1 in 604039 1 in 182533	1 in 381924 1 in 958441 1 in 445334 1 in 944136 <1 in 1,000,000 <1 in 1,000,000	1 in 1236 1 in 1958 1 in 1335 1 in 1943 1 in 2105 1 in 4933	1 in 676 1 in 1068 1 in 728 1 in 1060 1 in 1148 1 in 148	1 in 1236 1 in 1958 1 in 1335 1 in 1943 1 in 2105 1 in 4933	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HPD	Tyrosinemia, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,453 1 in 5764 1 in 9196 1 in 1026 1 in 4064	1 in 5,518 1 in 12969 1 in 20691 1 in 2309 1 in 9144	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 22072 1 in 51876 1 in 82764 1 in 9234 1 in 36576	1 in 9812 1 in 23056 1 in 36784 1 in 4104 1 in 16256	1 in 22072 1 in 51876 1 in 82764 1 in 9234 1 in 36576	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HPRT1	Lesch-Nyhan syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 145,204 N/A N/A N/A N/A	1 in 382,808 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
HPS1	Hermansky-Pudlak syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 493 1 in 906 1 in 2863 1 in 1539 1 in 999	1 in 1,448 1 in 2665 1 in 8421 1 in 4526 1 in 2938	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5792 1 in 10659 1 in 33682 1 in 18106 1 in 11753	1 in 1972 1 in 3624 1 in 11452 1 in 6156 1 in 3996	1 in 5792 1 in 10659 1 in 33682 1 in 18106 1 in 11753	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HPS3	Hermansky-Pudlak syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 491 1 in 799 1 in 219 1 in 393 1 in 3365 1 in 248	1 in 589 1 in 959 1 in 263 1 in 472 1 in 4038 1 in 24954	<1 in 1,000,000 <1 in 1,000,000 1 in 230213 1 in 741355 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 276255 1 in 889626 <1 in 1,000,000 <1 in 1,000,000	1 in 2356 1 in 3835 1 in 1051 1 in 1886 1 in 16152 1 in 99816	1 in 1964 1 in 3196 1 in 876 1 in 1572 1 in 13460 1 in 998	1 in 2356 1 in 3835 1 in 1051 1 in 1886 1 in 16152 1 in 99816	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HSD17B10	HSD10 mitochondrial disease	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
HSD17B3	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 2,750 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 10993 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 10993 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HSD17B4	D-bifunctional protein deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 534 1 in 375 1 in 516 1 in 1282 1 in 1123	1 in 11,727 1 in 8250 1 in 11352 1 in 28204 1 in 24706	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 46908 1 in 33000 1 in 45408 1 in 112816 1 in 98824	1 in 2136 1 in 1500 1 in 2064 1 in 5128 1 in 4492	1 in 46908 1 in 33000 1 in 45408 1 in 112816 1 in 98824	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HSD3B2	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 862 1 in 2853 1 in 2258 1 in 1183 1 in 1151	1 in 1,831 1 in 6063 1 in 4798 1 in 2514 1 in 2446	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7323 1 in 24251 1 in 19193 1 in 10056 1 in 9784	1 in 3448 1 in 11412 1 in 9032 1 in 4732 1 in 4604	1 in 7323 1 in 24251 1 in 19193 1 in 10056 1 in 9784	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,625 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6498 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 6498 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HYAL1	?Mucopolysaccharidosis, type 9	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,811 1 in 1708 1 in 2296 1 in 1691 1 in 2692	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 11244 1 in 6832 1 in 9184 1 in 6764 1 in 10768	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HYLS1	Hydrolethalus syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 522 1 in 1092 1 in 2959 1 in 2199 1 in 885	1 in 587 1 in 1229 1 in 3329 1 in 2474 1 in 996	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2349 1 in 4914 1 in 13316 1 in 9896 1 in 3983	1 in 2088 1 in 4368 1 in 11836 1 in 8796 1 in 3540	1 in 2349 1 in 4914 1 in 13316 1 in 9896 1 in 3983	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IDH3B	Retinitis pigmentosa, type 46	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 999 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3996 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 3996 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IDS	Mucopolysaccharidosis, type 2	X-linked	Caucasian/European African/African American East Asian South Asian Latino	1 in 38,000 1 in 100000 1 in 24000 N/A 1 in 100000	1 in 90,827 1 in 239022 1 in 57365 N/A 1 in 239022	1 in 363307 1 in 956087 1 in 229461 N/A 1 in 956087	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
IDUA	Mucopolysaccharidosis type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 153 1 in 376 1 in 236 1 in 114 1 in 416	1 in 340 1 in 838 1 in 526 1 in 254 1 in 927	1 in 207844 <1 in 1,000,000 1 in 496301 1 in 115806 <1 in 1,000,000	1 in 461350 <1 in 1,000,000 <1 in 1,000,000 1 in 257984 <1 in 1,000,000	1 in 1358 1 in 3350 1 in 2103 1 in 1016 1 in 3707	1 in 612 1 in 1504 1 in 944 1 in 456 1 in 1664	1 in 1358 1 in 3350 1 in 2103 1 in 1016 1 in 3707	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IGHMBP2	Charcot-Marie-Tooth disease, axonal, type 2S	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 4,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 15988 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 15988 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IL1RAPL1	Mental retardation, X-linked, type 21/34	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 90,000 N/A N/A N/A N/A	1 in 359996 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
IL2RG	Severe combined immunodeficiency, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 33,334 N/A N/A N/A N/A	<1 in 84,000 N/A N/A N/A N/A	1 in 334228 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
IVD	Isovaleric acidemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 115 1 in 100 1 in 901 1 in 733 1 in 532	1 in 1,749 1 in 1533 1 in 13815 1 in 11239 1 in 8157	1 in 804540 1 in 613333 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6996 1 in 6133 1 in 55261 1 in 44957 1 in 32629	1 in 460 1 in 400 1 in 3604 1 in 2932 1 in 2128	1 in 6996 1 in 6133 1 in 55261 1 in 44957 1 in 32629	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IYD	Thyroid dyshormonogenesis, type 4	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 633 N/A N/A N/A N/A	1 in 402588 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2532 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 2532 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
JAK3	Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 475 1 in 174 1 in 1661 1 in 686 1 in 803	1 in 732 1 in 268 1 in 2561 1 in 1058 1 in 1238	<1 in 1,000,000 1 in 186702 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 287832 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2927 1 in 1073 1 in 10243 1 in 4230 1 in 4952	1 in 1900 1 in 696 1 in 6644 1 in 2744 1 in 3212	1 in 2927 1 in 1073 1 in 10243 1 in 4230 1 in 4952	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
KCNJ11	Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive; Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino	1 in 232 1 in 2899 1 in 420 1 in 1924 1 in 773	1 in 478 1 in 5985 1 in 867 1 in 3972 1 in 1596	1 in 443494 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 913566 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1912 1 in 23940 1 in 3468 1 in 15889 1 in 6383	1 in 928 1 in 11596 1 in 1680 1 in 7696 1 in 3092	1 in 1912 1 in 23940 1 in 3468 1 in 15889 1 in 6383	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
L1CAM	L1 Syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 15,000 N/A N/A N/A N/A	<1 in 49,000 N/A N/A N/A N/A	1 in 196259 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
LAMA2	LAMA2-related muscular dystrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 125 1 in 159 <1 in 610 1 in 306 1 in 114	1 in 656 1 in 840 1 in 3224 1 in 1617 1 in 603	1 in 328214 1 in 534513 <1 in 1,000,000 <1 in 1,000,000 1 in 274773	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2626 1 in 3362 1 in 12897 1 in 6470 1 in 2410	1 in 500 1 in 636 1 in 2440 1 in 1224 1 in 456	1 in 2626 1 in 3362 1 in 12897 1 in 6470 1 in 2410	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LAMA3	Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 606 1 in 782 1 in 495 1 in 810 1 in 1416	1 in 60,501 1 in 78200 1 in 49500 1 in 81000 1 in 141600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 242004 1 in 312800 1 in 198000 1 in 324000 1 in 566400	1 in 2424 1 in 3128 1 in 1980 1 in 3240 1 in 5664	1 in 242004 1 in 312800 1 in 198000 1 in 324000 1 in 566400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LAMB3	Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 222 1 in 268 1 in 877 1 in 629 1 in 1122	1 in 22,101 1 in 26800 1 in 87700 1 in 62900 1 in 112200	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 88404 1 in 107200 1 in 350800 1 in 251600 1 in 448800	1 in 888 1 in 1072 1 in 3508 1 in 2516 1 in 4488	1 in 88404 1 in 107200 1 in 350800 1 in 251600 1 in 448800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LAMC2	Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 772 1 in 823 1 in 285 1 in 1707 1 in 4197	1 in 5,949 1 in 6349 1 in 2199 1 in 13168 1 in 32377	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 23795 1 in 25395 1 in 8794 1 in 52673 1 in 129507	1 in 3088 1 in 3292 1 in 1140 1 in 6828 1 in 16788	1 in 23795 1 in 25395 1 in 8794 1 in 52673 1 in 129507	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LARGE1	Muscular dystrophy-dystroglycanopathy, type 6A and 6B	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 123 N/A N/A N/A N/A	1 in 287 N/A N/A N/A N/A	1 in 141663 N/A N/A N/A N/A	1 in 329017 N/A N/A N/A N/A	1 in 1147 N/A N/A N/A N/A	1 in 494 N/A N/A N/A N/A	1 in 1147 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LCA5	Leber congenital amaurosis, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,811 1 in 1862 1 in 1310 1 in 1899 1 in 8124	1 in 2,237 1 in 2300 1 in 1618 1 in 2346 1 in 10036	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8948 1 in 9200 1 in 6473 1 in 9383 1 in 40142	1 in 7244 1 in 7448 1 in 5240 1 in 7596 1 in 32496	1 in 8948 1 in 9200 1 in 6473 1 in 9383 1 in 40142	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LHCGR	Leydig cell hypoplasia	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,060 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4250 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4250 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LHX3	Pituitary hormone deficiency, combined, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,398 N/A 1 in 1210 N/A N/A	1 in 9,780 N/A 1 in 8470 N/A N/A	<1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A	<1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A	1 in 39120 N/A 1 in 33880 N/A N/A	1 in 5592 N/A 1 in 4840 N/A N/A	1 in 39120 N/A 1 in 33880 N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LIFR	Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 848 1 in 1444 1 in 1719 1 in 512 1 in 1670	1 in 2,881 1 in 4910 1 in 5845 1 in 1741 1 in 5678	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 11523 1 in 19638 1 in 23378 1 in 6963 1 in 22712	1 in 3392 1 in 5776 1 in 6876 1 in 2048 1 in 6680	1 in 11523 1 in 19638 1 in 23378 1 in 6963 1 in 22712	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LIPA	Lysosomal acid lipase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 112 1 in 565 1 in 635 1 in 769 1 in 329 1 in 634 1 in 26	1 in 176 1 in 890 1 in 1000 1 in 1211 1 in 518 1 in 31700 1 in 867	1 in 78770 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 681918 <1 in 1,000,000 1 in 90133	1 in 123658 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 703 1 in 3560 1 in 4001 1 in 4845 1 in 2073 1 in 126800 1 in 3467	1 in 448 1 in 2260 1 in 2540 1 in 3076 1 in 1316 1 in 2536 1 in 104	1 in 703 1 in 3560 1 in 4001 1 in 4845 1 in 2073 1 in 126800 1 in 3467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LIPH	Hypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 2,995 1 in 3000 N/A N/A 1 in 3000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 11980 1 in 12000 N/A N/A 1 in 12000	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 11980 1 in 12000 N/A N/A 1 in 12000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 414 1 in 1035 1 in 1835 1 in 2536 1 in 363	1 in 552 1 in 1380 1 in 2447 1 in 3381 1 in 484	1 in 913560 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 702768	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 937024	1 in 2207 1 in 5520 1 in 9787 1 in 13525 1 in 1936	1 in 1656 1 in 4140 1 in 7340 1 in 10144 1 in 1452	1 in 2207 1 in 5520 1 in 9787 1 in 13525 1 in 1936	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LOXHD1	Deafness, autosomal recessive, type 77	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 150 1 in 282 1 in 358 1 in 353 1 in 341 1 in 180	1 in 293 1 in 552 1 in 701 1 in 691 1 in 668 1 in 6000	1 in 175675 1 in 622938 <1 in 1,000,000 1 in 976104 1 in 910868 <1 in 1,000,000	1 in 342908 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1171 1 in 2209 1 in 2804 1 in 2765 1 in 2671 1 in 24000	1 in 600 1 in 1128 1 in 1432 1 in 1412 1 in 1364 1 in 720	1 in 1171 1 in 2209 1 in 2804 1 in 2765 1 in 2671 1 in 24000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LPL	Lipoprotein lipase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 374 1 in 68 1 in 1452 1 in 214 1 in 145	1 in 1,120 1 in 204 1 in 4356 1 in 642 1 in 435	<1 in 1,000,000 1 in 55488 <1 in 1,000,000 1 in 549552 1 in 252300	<1 in 1,000,000 1 in 166464 <1 in 1,000,000 <1 in 1,000,000 1 in 756900	1 in 4480 1 in 816 1 in 17424 1 in 2568 1 in 1740	1 in 1496 1 in 272 1 in 5808 1 in 856 1 in 580	1 in 4480 1 in 816 1 in 17424 1 in 2568 1 in 1740	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LRPPRC	Leigh syndrome, French-Canadian type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 768 1 in 655 1 in 222 1 in 758 1 in 1786	1 in 1,560 1 in 1331 1 in 451 1 in 1540 1 in 3630	<1 in 1,000,000 <1 in 1,000,000 1 in 400631 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 814186 <1 in 1,000,000 <1 in 1,000,000	1 in 6239 1 in 5325 1 in 1805 1 in 6162 1 in 14518	1 in 3072 1 in 2620 1 in 888 1 in 3032 1 in 7144	1 in 6239 1 in 5325 1 in 1805 1 in 6162 1 in 14518	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LYST	Chediak-Higashi syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MAN2B1	Alpha-mannosidosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 274 1 in 290 1 in 982 1 in 795 1 in 665	1 in 1,247 1 in 1323 1 in 4480 1 in 3627 1 in 3034	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4986 1 in 5293 1 in 17922 1 in 14509 1 in 12136	1 in 1096 1 in 1160 1 in 3928 1 in 3180 1 in 2660	1 in 4986 1 in 5293 1 in 17922 1 in 14509 1 in 12136	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MANBA	Mannosidosis, beta	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 684 1 in 1057 1 in 1513 1 in 1028 1 in 345	1 in 1,709 1 in 2643 1 in 3783 1 in 2570 1 in 863	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6834 1 in 10570 1 in 15130 1 in 10280 1 in 3450	1 in 2736 1 in 4228 1 in 6052 1 in 4112 1 in 1380	1 in 6834 1 in 10570 1 in 15130 1 in 10280 1 in 3450	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MAT1A	Methionine adenosyltransferase deficiency, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 708 N/A N/A N/A N/A	1 in 1,920 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 7680 N/A N/A N/A N/A	1 in 2832 N/A N/A N/A N/A	1 in 7680 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCCC1	3-Methylcrotonyl-CoA carboxylase deficiency, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 353 1 in 904 1 in 1157 1 in 417 1 in 370	1 in 705 1 in 1808 1 in 2314 1 in 834 1 in 740	1 in 995460 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2820 1 in 7232 1 in 9256 1 in 3336 1 in 2960	1 in 1412 1 in 3616 1 in 4628 1 in 1668 1 in 1480	1 in 2820 1 in 7232 1 in 9256 1 in 3336 1 in 2960	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCCC2	3-Methylcrotonyl-CoA carboxylase deficiency, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 204 1 in 407 1 in 192 1 in 308 1 in 125	1 in 788 1 in 1577 1 in 744 1 in 1194 1 in 484	1 in 642702 <1 in 1,000,000 1 in 571392 <1 in 1,000,000 1 in 242188	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 938477	1 in 3151 1 in 6309 1 in 2976 1 in 4774 1 in 1938	1 in 816 1 in 1628 1 in 768 1 in 1232 1 in 500	1 in 3151 1 in 6309 1 in 2976 1 in 4774 1 in 1938	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCEE	Methylmalonyl-CoA epimerase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 1 in 1878 1 in 2277 1 in 7646 N/A	1 in 50,000 1 in 187800 1 in 227700 1 in 764600 N/A	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A	1 in 199804 1 in 751200 1 in 910800 <1 in 1,000,000 N/A	1 in 2002 1 in 7512 1 in 9108 1 in 30584 N/A	1 in 199804 1 in 751200 1 in 910800 <1 in 1,000,000 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCOLN1	Mucolipidosis type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,166 1 in 2037 N/A 1 in 2565 1 in 1537 1 in 115	1 in 4,850 1 in 8479 N/A 1 in 10677 1 in 6398 1 in 483	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 214707	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 933511	1 in 19402 1 in 33917 N/A 1 in 42709 1 in 25592 1 in 1932	1 in 4664 1 in 8148 N/A 1 in 10260 1 in 6148 1 in 444	1 in 19402 1 in 33917 N/A 1 in 42709 1 in 25592 1 in 1932	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MECP2	Encephalopathy, neonatal severe; Rett syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
MED17	Microcephaly, postnatal progressive, with seizures and brain atrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,287 N/A N/A N/A N/A N/A 1 in 20	N/A N/A N/A N/A N/A N/A 1 in 667	N/A N/A N/A N/A N/A N/A 1 in 53333	N/A N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A N/A 1 in 2667	1 in 5148 N/A N/A N/A N/A N/A 1 in 80	N/A N/A N/A N/A N/A N/A 1 in 2667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MEFV	Familial Mediterranean fever	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 40 1 in 230 1 in 141 1 in 56 1 in 74 1 in 8-13	1 in 95 1 in 552 1 in 338 1 in 134 1 in 178 N/A	1 in 15136 1 in 507840 1 in 190858 1 in 30106 1 in 52570 N/A	1 in 35797 <1 in 1,000,000 1 in 458058 1 in 72253 1 in 126167 N/A	1 in 378 1 in 2208 1 in 1354 1 in 538 1 in 710 N/A	1 in 160 1 in 920 1 in 564 1 in 224 1 in 296 1 in 40	1 in 378 1 in 2208 1 in 1354 1 in 538 1 in 710 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MESP2	Spondylocostal dysostosis, type 2, autosomal recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 3,820 1 in 145 1 in 237 1 in 168 1 in 216	1 in 4,457 1 in 169 1 in 277 1 in 196 1 in 252	<1 in 1,000,000 1 in 98117 1 in 262122 1 in 131712 1 in 217728	<1 in 1,000,000 1 in 114469 1 in 305809 1 in 153664 1 in 254016	1 in 17826 1 in 677 1 in 1106 1 in 784 1 in 1008	1 in 15280 1 in 580 1 in 948 1 in 672 1 in 864	1 in 17826 1 in 677 1 in 1106 1 in 784 1 in 1008	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MFSD8	Ceroid lipofuscinosis, neuronal, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 555 1 in 1351 1 in 869 1 in 480 1 in 1289	1 in 1,272 1 in 3099 1 in 1994 1 in 1101 1 in 2957	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5088 1 in 12397 1 in 7974 1 in 4405 1 in 11828	1 in 2220 1 in 5404 1 in 3476 1 in 1920 1 in 5156	1 in 5088 1 in 12397 1 in 7974 1 in 4405 1 in 11828	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MKS1	Bardet-Biedl syndrome type 13; Meckel syndrome, type 1; Joubert syndrome, type 28	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 246 1 in 750 1 in 283 1 in 355 1 in 1066	1 in 859 1 in 2625 1 in 991 1 in 1243 1 in 3731	1 in 844764 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3434 1 in 10500 1 in 3962 1 in 4970 1 in 14924	1 in 984 1 in 3000 1 in 1132 1 in 1420 1 in 4264	1 in 3434 1 in 10500 1 in 3962 1 in 4970 1 in 14924	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 884 1 in 737 1 in 1710 1 in 1280 1 in 5597 1 in 196	1 in 4,416 1 in 3685 1 in 8550 1 in 6400 1 in 27985 1 in 19600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 17664 1 in 14740 1 in 34200 1 in 25600 1 in 111940 1 in 78400	1 in 3536 1 in 2948 1 in 6840 1 in 5120 1 in 22388 1 in 784	1 in 17664 1 in 14740 1 in 34200 1 in 25600 1 in 111940 1 in 78400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MLYCD	Malonyl-CoA decarboxylase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMAA	Methylmalonic aciduria, vitamin B12-responsive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 677 1 in 280 1 in 2156 1 in 1167 1 in 2098	1 in 2,619 1 in 1084 1 in 8349 1 in 4519 1 in 8124	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10475 1 in 4337 1 in 33396 1 in 18077 1 in 32497	1 in 2708 1 in 1120 1 in 8624 1 in 4668 1 in 8392	1 in 10475 1 in 4337 1 in 33396 1 in 18077 1 in 32497	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMAB	Methylmalonic aciduria, vitamin B12-responsive, type cblB	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 672 1 in 542 N/A 1 in 640 1 in 1411	1 in 3,220 1 in 2600 N/A 1 in 3070 1 in 6769	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 12879 1 in 10400 N/A 1 in 12280 1 in 27075	1 in 2688 1 in 2168 N/A 1 in 2560 1 in 5644	1 in 12879 1 in 10400 N/A 1 in 12280 1 in 27075	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	Autosomal recessive, digenic inheritance (PRDX1 gene)	General African/African American East Asian South Asian Latino	1 in 224 1 in 280 1 in 184 1 in 230 1 in 102	1 in 2,232 1 in 2800 1 in 1840 1 in 2300 1 in 1020	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 416160	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8928 1 in 11200 1 in 7360 1 in 9200 1 in 4080	1 in 896 1 in 1120 1 in 736 1 in 920 1 in 408	1 in 8928 1 in 11200 1 in 7360 1 in 9200 1 in 4080	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMADHC	Homocystinuria, cblD type, variant 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,194 1 in 3366 1 in 1720 1 in 1282 1 in 5641	1 in 6,215 1 in 9537 1 in 4873 1 in 3632 1 in 15983	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 24858 1 in 38148 1 in 19493 1 in 14529 1 in 63931	1 in 8776 1 in 13464 1 in 6880 1 in 5128 1 in 22564	1 in 24858 1 in 38148 1 in 19493 1 in 14529 1 in 63931	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMUT	Methylmalonic aciduria, mut(0) type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 296 1 in 145 1 in 110 1 in 72 1 in 180	1 in 1,169 1 in 574 1 in 435 1 in 285 1 in 712	<1 in 1,000,000 1 in 332861 1 in 191563 1 in 82071 1 in 512946	<1 in 1,000,000 <1 in 1,000,000 1 in 758191 1 in 324831 <1 in 1,000,000	1 in 4674 1 in 2296 1 in 1741 1 in 1140 1 in 2850	1 in 1184 1 in 580 1 in 440 1 in 288 1 in 720	1 in 4674 1 in 2296 1 in 1741 1 in 1140 1 in 2850	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MOGS	Congenital disorder of glycosylation, type 2B	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 667 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2668 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 2668 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MPI	Congenital disorder of glycosylation, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 473 1 in 688 1 in 442 1 in 1924 1 in 1139	1 in 9441 1 in 13760 1 in 8840 1 in 38480 1 in 22780	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 37764 1 in 55040 1 in 35360 1 in 153920 1 in 91120	1 in 1892 1 in 2752 1 in 1768 1 in 7696 1 in 4556	1 in 37764 1 in 55040 1 in 35360 1 in 153920 1 in 91120	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MPL	Thrombocytopenia, congenital amegakaryocytic	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 241 1 in 496 1 in 681 1 in 617 1 in 602 1 in 56	1 in 433 1 in 893 1 in 1226 1 in 1111 1 in 1084 1 in 1866	1 in 417412 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 417867	1 in 749956 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1732 1 in 3571 1 in 4903 1 in 4442 1 in 4334 1 in 7464	1 in 964 1 in 1984 1 in 2724 1 in 2468 1 in 2408 1 in 224	1 in 1732 1 in 3571 1 in 4903 1 in 4442 1 in 4334 1 in 7464	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MPV17	Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EE	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 612 1 in 566 N/A 1 in 1399 N/A	1 in 1,783 1 in 1651 N/A 1 in 4080 N/A	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A	1 in 7132 1 in 6603 N/A 1 in 16322 N/A	1 in 2448 1 in 2264 N/A 1 in 5596 N/A	1 in 7132 1 in 6603 N/A 1 in 16322 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTHFR	Homocystinuria due to MTHFR deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,119 N/A N/A N/A N/A N/A 1 in 39	N/A N/A N/A N/A N/A N/A 1 in 1300	N/A N/A N/A N/A N/A N/A 1 in 202800	N/A N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A N/A 1 in 5200	1 in 4476 N/A N/A N/A N/A N/A 1 in 156	N/A N/A N/A N/A N/A N/A 1 in 5200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTM1	Myotubular myopathy, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 29,412 N/A N/A N/A N/A	<1 in 140,000 N/A N/A N/A N/A	1 in 561248 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
MTMR2	Charcot-Marie-Tooth disease, type 4B1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTR	Homocystinuria-megaloblastic anemia, cblG complementation type	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 864 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3455 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 3455 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTRR	Homocystinuria-megaloblastic anemia, cbl E type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 642 1 in 759 N/A 1 in 2565 1 in 489	1 in 875 1 in 1035 N/A 1 in 3498 1 in 667	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 3500 1 in 4140 N/A 1 in 13991 1 in 2667	1 in 2568 1 in 3036 N/A 1 in 10260 1 in 1956	1 in 3500 1 in 4140 N/A 1 in 13991 1 in 2667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTTP	Abetalipoproteinemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 655 1 in 1354 1 in 1437 1 in 3078 1 in 2131 1 in 186	1 in 1,496 1 in 3095 1 in 3285 1 in 7035 1 in 4871 1 in 6200	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5983 1 in 12379 1 in 13138 1 in 28142 1 in 19483 1 in 24800	1 in 2620 1 in 5416 1 in 5748 1 in 12312 1 in 8524 1 in 744	1 in 5983 1 in 12379 1 in 13138 1 in 28142 1 in 19483 1 in 24800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MVK	Mevalonic aciduria	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 286 N/A N/A N/A N/A	1 in 2,261 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 9043 N/A N/A N/A N/A	1 in 1143 N/A N/A N/A N/A	1 in 9043 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MYO15A	Deafness, autosomal recessive, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MYO7A	Usher syndrome, type 1B; Deafness, autosomal recessive, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 129 1 in 174 1 in 119 1 in 61 1 in 300	1 in 371 1 in 503 1 in 344 1 in 176 1 in 867	1 in 191339 1 in 349888 1 in 163653 1 in 43002 <1 in 1,000,000	1 in 550004 <1 in 1,000,000 1 in 472818 1 in 124240 <1 in 1,000,000	1 in 1483 1 in 2011 1 in 1375 1 in 705 1 in 3467	1 in 516 1 in 696 1 in 476 1 in 244 1 in 1200	1 in 1483 1 in 2011 1 in 1375 1 in 705 1 in 3467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NADK2	2,4-dienoyl-CoA reductase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NAGLU	Mucopolysaccharidosis, type 3B (Sanfilippo B)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 346 1 in 216 1 in 324 1 in 442 1 in 647	1 in 644 1 in 403 1 in 604 1 in 824 1 in 1207	1 in 891820 1 in 348029 1 in 783064 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 649026 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2578 1 in 1611 1 in 2417 1 in 3297 1 in 4826	1 in 1384 1 in 864 1 in 1296 1 in 1768 1 in 2588	1 in 2578 1 in 1611 1 in 2417 1 in 3297 1 in 4826	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NAGS	N-acetylglutamate synthase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 920 1 in 701 N/A 1 in 2850 1 in 2493	1 in 1,755 1 in 1338 N/A 1 in 5441 1 in 4759	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 7022 1 in 5353 N/A 1 in 21764 1 in 19037	1 in 3680 1 in 2804 N/A 1 in 11400 1 in 9972	1 in 7022 1 in 5353 N/A 1 in 21764 1 in 19037	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NBN	Nijmegen breakage syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 525 1 in 503 1 in 2137 1 in 1025 1 in 1403	1 in 1,667 1 in 1600 1 in 6796 1 in 3260 1 in 4462	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6669 1 in 6398 1 in 27183 1 in 13038 1 in 17846	1 in 2100 1 in 2012 1 in 8548 1 in 4100 1 in 5612	1 in 6669 1 in 6398 1 in 27183 1 in 13038 1 in 17846	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NCF1	Chronic granulomatous disease, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 343 1 in 358 1 in 1110 1 in 437 1 in 220	1 in 1,027 1 in 1074 1 in 3330 1 in 1311 1 in 660	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 580800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4108 1 in 4296 1 in 13320 1 in 5244 1 in 2640	1 in 1372 1 in 1432 1 in 4440 1 in 1748 1 in 880	1 in 4108 1 in 4296 1 in 13320 1 in 5244 1 in 2640	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NCF2	Chronic granulomatous disease, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,883 1 in 556 1 in 2262 1 in 2189 1 in 8129	1 in 3,953 1 in 1168 1 in 4750 1 in 4597 1 in 17071	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15813 1 in 4670 1 in 19001 1 in 18388 1 in 68284	1 in 7532 1 in 2224 1 in 9048 1 in 8756 1 in 32516	1 in 15813 1 in 4670 1 in 19001 1 in 18388 1 in 68284	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDP	Norrie disease	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
NDRG1	Charcot-Marie-Tooth disease, type 4D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 7,299 N/A 1 in 2252 1 in 4789 N/A	1 in 29,193 N/A 1 in 9008 1 in 19156 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	1 in 116772 N/A 1 in 36032 1 in 76624 N/A	1 in 29196 N/A 1 in 9008 1 in 19156 N/A	1 in 116772 N/A 1 in 36032 1 in 76624 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFAF2	Mitochondrial complex I deficiency, nuclear type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,014 1 in 796 1 in 889 1 in 1326 1 in 1625	1 in 2,365 1 in 1857 1 in 2074 1 in 3094 1 in 3792	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9459 1 in 7429 1 in 8297 1 in 12376 1 in 15167	1 in 4056 1 in 3184 1 in 3556 1 in 5304 1 in 6500	1 in 9459 1 in 7429 1 in 8297 1 in 12376 1 in 15167	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFAF5	Mitochondrial complex I deficiency, nuclear type 16	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 982 1 in 861 1 in 309 1 in 1180 1 in 1625 ≤1 in 157	1 in 1,262 1 in 1107 1 in 397 1 in 1517 1 in 2089 1 in 6790	<1 in 1,000,000 <1 in 1,000,000 1 in 491045 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 631344 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5049 1 in 4428 1 in 1589 1 in 6069 1 in 8357 1 in 27162	1 in 3928 1 in 3444 1 in 1236 1 in 4720 1 in 6500 1 in 815	1 in 5049 1 in 4428 1 in 1589 1 in 6069 1 in 8357 1 in 27162	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFS4	Mitochondrial complex I deficiency, nuclear type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,738 1 in 1103 1 in 4597 1 in 1914 1 in 1207	1 in 5,212 1 in 3309 1 in 13791 1 in 5742 1 in 3621	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 20848 1 in 13236 1 in 55164 1 in 22968 1 in 14484	1 in 6952 1 in 4412 1 in 18388 1 in 7656 1 in 4828	1 in 20848 1 in 13236 1 in 55164 1 in 22968 1 in 14484	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 3,535 1 in 1896 1 in 1473 1 in 1398 1 in 2452 1 in 1113 1 in 24	1 in 4,419 1 in 2370 1 in 1841 1 in 1748 1 in 3065 1 in 37100 1 in 800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 76800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 17674 1 in 9480 1 in 7365 1 in 6990 1 in 12260 1 in 148400 1 in 3200	1 in 14140 1 in 7584 1 in 5892 1 in 5592 1 in 9808 1 in 4452 1 in 96	1 in 17674 1 in 9480 1 in 7365 1 in 6990 1 in 12260 1 in 148400 1 in 3200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFS7	Mitochondrial complex I deficiency, nuclear type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 839 1 in 2327 1 in 3320 1 in 180 1 in 1552	1 in 1,049 1 in 2909 1 in 4150 1 in 225 1 in 1940	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 162000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 202500 <1 in 1,000,000	1 in 4194 1 in 11635 1 in 16600 1 in 900 1 in 7760	1 in 3356 1 in 9308 1 in 13280 1 in 720 1 in 6208	1 in 4194 1 in 11635 1 in 16600 1 in 900 1 in 7760	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFV1	Mitochondrial complex I deficiency, nuclear type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 469 1 in 441 1 in 2260 1 in 319 1 in 157	1 in 736 1 in 693 1 in 3551 1 in 501 1 in 247	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 639641 1 in 154937	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 243472	1 in 2946 1 in 2772 1 in 14206 1 in 2005 1 in 987	1 in 1876 1 in 1764 1 in 9040 1 in 1276 1 in 628	1 in 2946 1 in 2772 1 in 14206 1 in 2005 1 in 987	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NEB	Nemaline myopathy type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 175 1 in 368 1 in 123 1 in 200 1 in 172 1 in 124	1 in 517 1 in 1091 1 in 365 1 in 593 1 in 510 1 in 123	1 in 361754 <1 in 1,000,000 1 in 179389 1 in 474291 1 in 350786 1 in 60074	<1 in 1,000,000 <1 in 1,000,000 1 in 531765 <1 in 1,000,000 <1 in 1,000,000 1 in 60681	1 in 2067 1 in 4363 1 in 1458 1 in 2371 1 in 2039 1 in 493	1 in 700 1 in 1472 1 in 492 1 in 800 1 in 688 1 in 488	1 in 2067 1 in 4363 1 in 1458 1 in 2371 1 in 2039 1 in 493	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NEU1	Sialidosis, type 1 and type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,666 1 in 2833 1 in 279 1 in 3045 1 in 636	1 in 2,841 1 in 4833 1 in 476 1 in 5194 1 in 1085	<1 in 1,000,000 <1 in 1,000,000 1 in 531150 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 906080 <1 in 1,000,000 <1 in 1,000,000	1 in 11365 1 in 19331 1 in 1904 1 in 20778 1 in 4340	1 in 6664 1 in 11332 1 in 1116 1 in 12180 1 in 2544	1 in 11365 1 in 19331 1 in 1904 1 in 20778 1 in 4340	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NHP2	Dyskeratosis congenita, autosomal recessive type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 24,964 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 99855 N/A N/A N/A N/A	1 in 1003 N/A N/A N/A N/A	1 in 99855 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NLRP7	Hydatidiform mole, recurrent, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 722 1 in 722 N/A N/A 1 in 722	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2887 1 in 2889 N/A N/A 1 in 2889	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 2887 1 in 2889 N/A N/A 1 in 2889	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NOP10	Dyskeratosis congenita, autosomal recessive type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 500 N/A N/A N/A N/A	1 in 501507 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2001 N/A N/A N/A N/A	1 in 1003 N/A N/A N/A N/A	1 in 2001 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPC1	Niemann-Pick disease, type C1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 163 1 in 233 1 in 211 1 in 334 1 in 272	1 in 954 1 in 1371 1 in 1242 1 in 1965 1 in 1601	1 in 622209 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3817 1 in 5484 1 in 4967 1 in 7862 1 in 6402	1 in 652 1 in 932 1 in 844 1 in 1336 1 in 1088	1 in 3817 1 in 5484 1 in 4967 1 in 7862 1 in 6402	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPC2	Niemann-pick disease, type C2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 945 1 in 1214 N/A N/A 1 in 3089	1 in 3,588 1 in 4613 N/A N/A 1 in 11738	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 14353 1 in 18453 N/A N/A 1 in 46953	1 in 3780 1 in 4856 N/A N/A 1 in 12356	1 in 14353 1 in 18453 N/A N/A 1 in 46953	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPHP1	Joubert syndrome type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 418 1 in 315 1 in 164 1 in 536 1 in 218	1 in 825 1 in 623 1 in 324 1 in 1060 1 in 431	<1 in 1,000,000 1 in 784570 1 in 212666 <1 in 1,000,000 1 in 375771	<1 in 1,000,000 <1 in 1,000,000 1 in 420386 <1 in 1,000,000 1 in 742803	1 in 3301 1 in 2491 1 in 1297 1 in 4238 1 in 1724	1 in 1672 1 in 1260 1 in 656 1 in 2144 1 in 872	1 in 3301 1 in 2491 1 in 1297 1 in 4238 1 in 1724	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPHS1	Nephrotic syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 190 1 in 191 1 in 398 1 in 145 1 in 298	1 in 1,993 1 in 2013 1 in 4194 1 in 1528 1 in 3140	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 886285 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7971 1 in 8051 1 in 16777 1 in 6112 1 in 12562	1 in 760 1 in 764 1 in 1592 1 in 580 1 in 1192	1 in 7971 1 in 8051 1 in 16777 1 in 6112 1 in 12562	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPHS2	Nephrotic syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 226 1 in 456 1 in 595 1 in 733 1 in 884	1 in 601 1 in 1216 1 in 1587 1 in 1955 1 in 2357	1 in 543304 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2404 1 in 4864 1 in 6347 1 in 7819 1 in 9429	1 in 904 1 in 1824 1 in 2380 1 in 2932 1 in 3536	1 in 2404 1 in 4864 1 in 6347 1 in 7819 1 in 9429	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NR0B1	Adrenal hypoplasia, congenital	X-linked	General African/African American East Asian South Asian Latino	1 in 35,000 N/A N/A N/A N/A	<1 in 66,000 N/A N/A N/A N/A	1 in 265694 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
NR2E3	Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37	Autosomal recessive; Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 278 1 in 389 1 in 488 1 in 874 1 in 536 1 in 81	1 in 417 1 in 584 1 in 732 1 in 1311 1 in 804 1 in 2700	1 in 463148 1 in 907926 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 874800	1 in 693889 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1666 1 in 2334 1 in 2928 1 in 5244 1 in 3216 1 in 10800	1 in 1112 1 in 1556 1 in 1952 1 in 3496 1 in 2144 1 in 324	1 in 1666 1 in 2334 1 in 2928 1 in 5244 1 in 3216 1 in 10800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NTRK1	Insensitivity to pain, congenital, with anhidrosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,122 1 in 713 1 in 280 1 in 3539 1 in 2105 <1 in 500	1 in 1,974 1 in 1255 1 in 493 1 in 6229 1 in 3705 1 in 60900	<1 in 1,000,000 <1 in 1,000,000 1 in 551936 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 971407 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7896 1 in 5020 1 in 1971 1 in 24915 1 in 14819 1 in 243600	1 in 4488 1 in 2852 1 in 1120 1 in 14156 1 in 8420 1 in 7308	1 in 7896 1 in 5020 1 in 1971 1 in 24915 1 in 14819 1 in 243600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OAT	Gyrate atrophy of choroid and retina	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 749 1 in 2898 N/A 1 in 905 1 in 1291 1 in 615 1 in 177	1 in 5,071 1 in 19642 N/A 1 in 6134 1 in 8750 1 in 20500 1 in 5900	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 20283 1 in 78568 N/A 1 in 24536 1 in 35000 1 in 82000 1 in 23600	1 in 2996 1 in 11592 N/A 1 in 3620 1 in 5164 1 in 2460 1 in 708	1 in 20283 1 in 78568 N/A 1 in 24536 1 in 35000 1 in 82000 1 in 23600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OCA2	Oculocutaneous albinism type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 101 N/A N/A N/A N/A	1 in 204 N/A N/A N/A N/A	1 in 82071 N/A N/A N/A N/A	1 in 166710 N/A N/A N/A N/A	1 in 817 N/A N/A N/A N/A	1 in 402 N/A N/A N/A N/A	1 in 817 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OCRL	Lowe Syndrome; Dent disease type 2	X-linked	General African/African American East Asian South Asian Latino	1 in 357,144 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
OPA3	3-methylglutaconic aciduria, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 4,808 1 in 500 N/A N/A 1 in 3349 N/A 1 in 12	1 in 6,010 1 in 625 N/A N/A 1 in 4186 N/A 1 in 400	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 N/A 1 in 19200	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 N/A 1 in 640000	1 in 24039 1 in 2500 N/A N/A 1 in 16745 N/A 1 in 1600	1 in 19232 1 in 2000 N/A N/A 1 in 13396 N/A 1 in 48	1 in 24039 1 in 2500 N/A N/A 1 in 16745 N/A 1 in 1600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OPHN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
OSTM1	Osteopetrosis, autosomal recessive type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 6,173 N/A 1 in 9197 1 in 6619 N/A	1 in 9,259 N/A 1 in 13796 1 in 9929 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	1 in 37036 N/A 1 in 55182 1 in 39714 N/A	1 in 24692 N/A 1 in 36788 1 in 26476 N/A	1 in 37036 N/A 1 in 55182 1 in 39714 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OTC	Ornithine transcarbamylase deficiency	X-linked	General African/African American East Asian South Asian Latino	1 in 37,667 1 in 35000 N/A N/A 1 in 35000	<1 in 96,000 1 in 89077 N/A N/A 1 in 89077	1 in 383453 1 in 356306 N/A N/A 1 in 356306	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
OTOF	Deafness, autosomal recessive, type 9	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 228 1 in 258 1 in 52 1 in 240 1 in 201	1 in 22,701 1 in 25800 1 in 5200 1 in 24000 1 in 20100	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 90804 1 in 103200 1 in 20800 1 in 96000 1 in 80400	1 in 912 1 in 1032 1 in 208 1 in 960 1 in 804	1 in 90804 1 in 103200 1 in 20800 1 in 96000 1 in 80400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
P3H1	Osteogenesis imperfecta, type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 567 1 in 278 1 in 206 1 in 765 1 in 136	1 in 1,447 1 in 710 1 in 526 1 in 1955 1 in 348	<1 in 1,000,000 1 in 790014 1 in 433790 <1 in 1,000,000 1 in 189070	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 483179	1 in 5790 1 in 2842 1 in 2106 1 in 7820 1 in 1390	1 in 2268 1 in 1112 1 in 824 1 in 3060 1 in 544	1 in 5790 1 in 2842 1 in 2106 1 in 7820 1 in 1390	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PAH	Phenylketonuria	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 51 1 in 143 1 in 68 1 in 121 1 in 70 ≤1 in 17	1 in 1,239 1 in 3575 1 in 1700 1 in 3025 1 in 1750 1 in 1052	1 in 250228 <1 in 1,000,000 1 in 462400 <1 in 1,000,000 1 in 490000 1 in 132814	1 in 6136780 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4955 1 in 14300 1 in 6800 1 in 12100 1 in 7000 1 in 4208	1 in 202 1 in 572 1 in 272 1 in 484 1 in 280 1 in 126	1 in 1324 1 in 14300 1 in 6800 1 in 12100 1 in 7000 1 in 4208	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PAK3	Mental retardation, X-linked, type 30	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 90,000 N/A N/A N/A N/A	1 in 359996 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PANK2	Neurodegeneration with brain iron accumulation type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 700 1 in 845 1 in 655 1 in 427 1 in 1027	1 in 1,175 1 in 1420 1 in 1100 1 in 717 1 in 1725	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4701 1 in 5678 1 in 4402 1 in 2869 1 in 6901	1 in 2800 1 in 3380 1 in 2620 1 in 1708 1 in 4108	1 in 4701 1 in 5678 1 in 4402 1 in 2869 1 in 6901	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PC	Pyruvate carboxylase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 251 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 637368 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2544 N/A N/A N/A N/A	1 in 1002 N/A N/A N/A N/A	1 in 2544 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCBD1	Hyperphenylalaninemia, BH4-deficient, type D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 984 1 in 1306 1 in 1314 1 in 7638 1 in 169	1 in 1,312 1 in 1741 1 in 1752 1 in 10184 1 in 225	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 152325	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 203100	1 in 5247 1 in 6965 1 in 7008 1 in 40736 1 in 901	1 in 3936 1 in 5224 1 in 5256 1 in 30552 1 in 676	1 in 5247 1 in 6965 1 in 7008 1 in 40736 1 in 901	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCCA	Propionic acidemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 636 1 in 393 1 in 419 1 in 507 1 in 429	1 in 1,237 1 in 765 1 in 816 1 in 987 1 in 835	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4948 1 in 3060 1 in 3262 1 in 3947 1 in 3340	1 in 2544 1 in 1572 1 in 1676 1 in 2028 1 in 1716	1 in 4948 1 in 3060 1 in 3262 1 in 3947 1 in 3340	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCCB	Propionic acidemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 635 1 in 257 1 in 192 1 in 1490 1 in 688	1 in 1,816 1 in 736 1 in 550 1 in 4265 1 in 1969	<1 in 1,000,000 1 in 756163 1 in 422038 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7262 1 in 2942 1 in 2198 1 in 17058 1 in 7877	1 in 2540 1 in 1028 1 in 768 1 in 5960 1 in 2752	1 in 7262 1 in 2942 1 in 2198 1 in 17058 1 in 7877	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCDH15	Deafness, autosomal recessive, type 23; Usher syndrome, type 1D/F digenic	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 497 1 in 548 1 in 191 1 in 805 1 in 545 ≤1 in 72	1 in 1,034 1 in 1142 1 in 398 1 in 1677 1 in 1135 1 in 381	<1 in 1,000,000 <1 in 1,000,000 1 in 304008 <1 in 1,000,000 <1 in 1,000,000 1 in 145386	<1 in 1,000,000 <1 in 1,000,000 1 in 633351 <1 in 1,000,000 <1 in 1,000,000 1 in 581546	1 in 4137 1 in 4567 1 in 1592 1 in 6708 1 in 4542 1 in 1525	1 in 1988 1 in 2192 1 in 764 1 in 3220 1 in 2180 1 in 381	1 in 4137 1 in 4567 1 in 1592 1 in 6708 1 in 4542 1 in 1525	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PDE6A	Retinitis pigmentosa type 43	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 863 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3452 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 3452 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency	X-linked	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PDHB	Pyruvate dehydrogenase E1-beta deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,529 1 in 1352 1 in 9197 1 in 1797 1 in 8128	1 in 4,214 1 in 2253 1 in 15328 1 in 2995 1 in 13547	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16857 1 in 9013 1 in 61313 1 in 11980 1 in 54187	1 in 10116 1 in 5408 1 in 36788 1 in 7188 1 in 32512	1 in 16857 1 in 9013 1 in 61313 1 in 11980 1 in 54187	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX1	Heimler syndrome type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 191 1 in 366 1 in 153 1 in 556 1 in 601	1 in 19,000 1 in 36600 1 in 15300 1 in 55600 1 in 60100	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 76004 1 in 146400 1 in 61200 1 in 222400 1 in 240400	1 in 764 1 in 1464 1 in 612 1 in 2224 1 in 2404	1 in 76004 1 in 146400 1 in 61200 1 in 222400 1 in 240400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX10	Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,287 1 in 952 1 in 2025 1 in 917 1 in 3744	1 in 4,245 1 in 3142 1 in 6683 1 in 3026 1 in 12355	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16979 1 in 12566 1 in 26730 1 in 12104 1 in 49421	1 in 5148 1 in 3808 1 in 8100 1 in 3668 1 in 14976	1 in 16979 1 in 12566 1 in 26730 1 in 12104 1 in 49421	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX12	Peroxisome biogenesis disorder type 3A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 718 1 in 527 1 in 2875 1 in 1278 1 in 552	1 in 71,701 1 in 52700 1 in 287500 1 in 127800 1 in 55200	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 286804 1 in 210800 <1 in 1,000,000 1 in 511200 1 in 220800	1 in 2872 1 in 2108 1 in 11500 1 in 5112 1 in 2208	1 in 286804 1 in 210800 <1 in 1,000,000 1 in 511200 1 in 220800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX2	Peroxisome biogenesis disorder type 5A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,542 1 in 1741 1 in 2156 1 in 1922 1 in 2798 ≤1 in 123	1 in 6,165 1 in 6964 1 in 8624 1 in 7688 1 in 11192 1 in 5318	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 24660 1 in 27856 1 in 34496 1 in 30752 1 in 44768 1 in 21273	1 in 6168 1 in 6964 1 in 8624 1 in 7688 1 in 11192 1 in 638	1 in 24660 1 in 27856 1 in 34496 1 in 30752 1 in 44768 1 in 21273	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX26	Peroxisome biogenesis disorder type 7A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 996 1 in 691 1 in 263 1 in 1860 1 in 271	1 in 1,659 1 in 1152 1 in 438 1 in 3100 1 in 452	<1 in 1,000,000 <1 in 1,000,000 1 in 461127 <1 in 1,000,000 1 in 489607	<1 in 1,000,000 <1 in 1,000,000 1 in 768544 <1 in 1,000,000 1 in 816011	1 in 6637 1 in 4607 1 in 1753 1 in 12400 1 in 1807	1 in 3984 1 in 2764 1 in 1052 1 in 7440 1 in 1084	1 in 6637 1 in 4607 1 in 1753 1 in 12400 1 in 1807	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX5	Peroxisome biogenesis disorder type 2A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 914 1 in 2460 1 in 202 1 in 1024 1 in 1937	1 in 2,010 1 in 5412 1 in 444 1 in 2253 1 in 4261	<1 in 1,000,000 <1 in 1,000,000 1 in 359075 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 789965 <1 in 1,000,000 <1 in 1,000,000	1 in 8038 1 in 21648 1 in 1778 1 in 9011 1 in 17046	1 in 3656 1 in 9840 1 in 808 1 in 4096 1 in 7748	1 in 8038 1 in 21648 1 in 1778 1 in 9011 1 in 17046	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX6	Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2	Autosomal recessive; Autosomal recessive*; Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 83 1 in 268 1 in 595 1 in 105 1 in 239 1 in 252	1 in 216 1 in 702 1 in 1558 1 in 275 1 in 626 1 in 843	1 in 71633 1 in 752442 <1 in 1,000,000 1 in 115500 1 in 598410 1 in 853453	1 in 186213 <1 in 1,000,000 <1 in 1,000,000 1 in 302500 <1 in 1,000,000 <1 in 1,000,000	1 in 863 1 in 2808 1 in 6233 1 in 1100 1 in 2504 1 in 3373	1 in 332 1 in 1072 1 in 2380 1 in 420 1 in 956 1 in 1012	1 in 863 1 in 2808 1 in 6233 1 in 1100 1 in 2504 1 in 3373	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX7	Rhizomelic chondrodysplasia punctata, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 371 1 in 491 1 in 552 1 in 2285 1 in 485	1 in 1,032 1 in 1368 1 in 1538 1 in 6365 1 in 1351	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4127 1 in 5471 1 in 6151 1 in 25461 1 in 5404	1 in 1484 1 in 1964 1 in 2208 1 in 9140 1 in 1940	1 in 4127 1 in 5471 1 in 6151 1 in 25461 1 in 5404	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PFKM	Glycogen storage disease, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 868 1 in 647 1 in 488 1 in 1165 1 in 62 ≤1 in 108	1 in 1,843 1 in 1375 1 in 1037 1 in 2476 1 in 132 1 in 5028	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 32674 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 69432 <1 in 1,000,000	1 in 7374 1 in 5500 1 in 4148 1 in 9903 1 in 527 1 in 20112	1 in 3472 1 in 2588 1 in 1952 1 in 4660 1 in 248 1 in 603	1 in 7374 1 in 5500 1 in 4148 1 in 9903 1 in 527 1 in 20112	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PGK1	Phosphoglycerate kinase 1 deficiency	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PHF8	Mental retardation syndrome, X-linked, Siderius type	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 916,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PHGDH	Neu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 631 1 in 1639 1 in 1232 1 in 1665 1 in 1311 ≤1 in 280	1 in 3,361 1 in 8741 1 in 6571 1 in 8880 1 in 6992 1 in 11536	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13444 1 in 34965 1 in 26283 1 in 35520 1 in 27968 1 in 46145	1 in 2524 1 in 6556 1 in 4928 1 in 6660 1 in 5244 1 in 1384	1 in 13444 1 in 34965 1 in 26283 1 in 35520 1 in 27968 1 in 46145	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PKHD1	Polycystic kidney disease type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 66 1 in 66 1 in 119 1 in 154 1 in 99 1 in 106	1 in 266 1 in 269 1 in 485 1 in 628 1 in 404 1 in 3533	1 in 70204 1 in 71016 1 in 230867 1 in 386643 1 in 159786 <1 in 1,000,000	1 in 282863 1 in 289444 1 in 940959 <1 in 1,000,000 1 in 651249 <1 in 1,000,000	1 in 1064 1 in 1076 1 in 1940 1 in 2511 1 in 1614 1 in 14133	1 in 264 1 in 264 1 in 476 1 in 616 1 in 396 1 in 424	1 in 1064 1 in 1076 1 in 1940 1 in 2511 1 in 1614 1 in 14133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PLA2G6	Infantile neuroaxonal dystrophy type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 343 1 in 530 1 in 251 1 in 60 1 in 214	1 in 856 1 in 1325 1 in 628 1 in 150 1 in 535	<1 in 1,000,000 <1 in 1,000,000 1 in 630010 1 in 36000 1 in 457960	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 90000 <1 in 1,000,000	1 in 3424 1 in 5300 1 in 2510 1 in 600 1 in 2140	1 in 1372 1 in 2120 1 in 1004 1 in 240 1 in 856	1 in 3424 1 in 5300 1 in 2510 1 in 600 1 in 2140	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 299 N/A N/A N/A N/A	1 in 189844 N/A N/A N/A N/A	1 in 358133 N/A N/A N/A N/A	1 in 1197 N/A N/A N/A N/A	1 in 634 N/A N/A N/A N/A	1 in 1197 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PLP1	Pelizaeus-Merzbacher disease	X-linked	General African/African American East Asian South Asian Latino	1 in 91,838 N/A N/A N/A N/A	1 in 113,109 N/A N/A N/A N/A	1 in 452435 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PMM2	Congenital disorder of glycosylation, type 1A	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 71 1 in 245 1 in 133 1 in 278 1 in 114 1 in 61	1 in 7,022 1 in 24500 1 in 13300 1 in 27800 1 in 11400 1 in 2033	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 496133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 28090 1 in 98000 1 in 53200 1 in 111200 1 in 45600 1 in 8133	1 in 285 1 in 980 1 in 532 1 in 1112 1 in 456 1 in 244	1 in 28090 1 in 98000 1 in 53200 1 in 111200 1 in 45600 1 in 8133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PNPO	Pyridoxamine 5'-phosphate oxidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,107 1 in 1846 1 in 1484 1 in 1920 1 in 386	1 in 3,983 1 in 6646 1 in 5342 1 in 6912 1 in 1390	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15930 1 in 26582 1 in 21370 1 in 27648 1 in 5558	1 in 4428 1 in 7384 1 in 5936 1 in 7680 1 in 1544	1 in 15930 1 in 26582 1 in 21370 1 in 27648 1 in 5558	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POLG	POLG-related disorders	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 194 N/A N/A N/A N/A	1 in 340 N/A N/A N/A N/A	1 in 264146 N/A N/A N/A N/A	1 in 462328 N/A N/A N/A N/A	1 in 1360 N/A N/A N/A N/A	1 in 777 N/A N/A N/A N/A	1 in 1360 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POLR1C	Leukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 1,021 N/A N/A N/A N/A	1 in 1,659 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6635 N/A N/A N/A N/A	1 in 4084 N/A N/A N/A N/A	1 in 6635 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POMGNT1	Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 315 1 in 674 1 in 581 1 in 727 1 in 544	1 in 31,401 1 in 67400 1 in 58100 1 in 72700 1 in 54400	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 125604 1 in 269600 1 in 232400 1 in 290800 1 in 217600	1 in 1260 1 in 2696 1 in 2324 1 in 2908 1 in 2176	1 in 125604 1 in 269600 1 in 232400 1 in 290800 1 in 217600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POMT1	Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 372 1 in 390 1 in 458 1 in 427 1 in 535	1 in 1,708 1 in 1794 1 in 2107 1 in 1964 1 in 2461	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6830 1 in 7176 1 in 8427 1 in 7857 1 in 9844	1 in 1488 1 in 1560 1 in 1832 1 in 1708 1 in 2140	1 in 6830 1 in 7176 1 in 8427 1 in 7857 1 in 9844	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POMT2	Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 833 1 in 908 1 in 1274 1 in 833 1 in 267	1 in 7,281 1 in 7945 1 in 11148 1 in 7289 1 in 2336	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 29124 1 in 31780 1 in 44590 1 in 29155 1 in 9345	1 in 3332 1 in 3632 1 in 5096 1 in 3332 1 in 1068	1 in 29124 1 in 31780 1 in 44590 1 in 29155 1 in 9345	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 268 1 in 278 1 in 105 1 in 417 1 in 563	1 in 1,069 1 in 1112 1 in 420 1 in 1668 1 in 2252	<1 in 1,000,000 <1 in 1,000,000 1 in 176400 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 705600 <1 in 1,000,000 <1 in 1,000,000	1 in 4276 1 in 4448 1 in 1680 1 in 6672 1 in 9008	1 in 1072 1 in 1112 1 in 420 1 in 1668 1 in 2252	1 in 4276 1 in 4448 1 in 1680 1 in 6672 1 in 9008	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POU1F1	Pituitary hormone deficiency, combined, type 1	Autosomal recessive*	General African/African American East Asian South Asian Latino	1 in 32 N/A N/A N/A N/A	1 in 126 N/A N/A N/A N/A	1 in 16133 N/A N/A N/A N/A	1 in 63024 N/A N/A N/A N/A	1 in 502 N/A N/A N/A N/A	1 in 129 N/A N/A N/A N/A	1 in 502 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POU3F4	Deafness, X-linked type 2 (DFNX2)	X-linked	General African/African American East Asian South Asian Latino	1 in 556,112 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PPM1K	?Maple syrup urine disease, mild variant	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PPT1	Ceroid lipofuscinosis, neuronal, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 488 1 in 628 1 in 918 1 in 641 1 in 1901	1 in 2,165 1 in 2791 1 in 4080 1 in 2849 1 in 8449	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8662 1 in 11164 1 in 16320 1 in 11396 1 in 33796	1 in 1952 1 in 2512 1 in 3672 1 in 2564 1 in 7604	1 in 8662 1 in 11164 1 in 16320 1 in 11396 1 in 33796	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PQBP1	Renpenning syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	1 in 107,142 N/A N/A N/A N/A	1 in 428567 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PRDX1	Methylmalonic aciduria and homocystinuria, cblC type, digenic	Autosomal recessive, digenic inheritance (MMACHC gene)	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PRF1	Hemophagocytic lymphohistiocytosis, familial, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 308 1 in 429 1 in 1099 1 in 226 1 in 126	1 in 538 1 in 751 1 in 1923 1 in 396 1 in 221	1 in 663124 <1 in 1,000,000 <1 in 1,000,000 1 in 357532 1 in 111132	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 625681 1 in 194481	1 in 2153 1 in 3003 1 in 7693 1 in 1582 1 in 882	1 in 1232 1 in 1716 1 in 4396 1 in 904 1 in 504	1 in 2153 1 in 3003 1 in 7693 1 in 1582 1 in 882	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PRODH	Hyperprolinemia, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PROP1	Pituitary hormone deficiency, combined, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 84 1 in 45 N/A N/A 1 in 584	1 in 8,299 1 in 4500 N/A N/A 1 in 58400	<1 in 1,000,000 1 in 810000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 33198 1 in 18000 N/A N/A 1 in 233600	1 in 336 1 in 180 N/A N/A 1 in 2336	1 in 33198 1 in 18000 N/A N/A 1 in 233600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PRPS1	PRPS1-related disoders	X-linked	General African/African American East Asian South Asian Latino	<1 in 50,000 N/A N/A N/A N/A	<1 in 221,000 N/A N/A N/A N/A	1 in 885701 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PSAP	Combined SAP deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,039 1 in 1941 N/A N/A 1 in 884	1 in 3,873 1 in 3688 N/A N/A 1 in 1680	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 15493 1 in 14752 N/A N/A 1 in 6718	1 in 8156 1 in 7764 N/A N/A 1 in 3536	1 in 15493 1 in 14752 N/A N/A 1 in 6718	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PTS	Hyperphenylalaninemia, BH4-deficient, type A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 478 1 in 703 1 in 156 1 in 343 1 in 533	1 in 1,259 1 in 1853 1 in 411 1 in 904 1 in 1405	<1 in 1,000,000 <1 in 1,000,000 1 in 256634 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 676581 <1 in 1,000,000 <1 in 1,000,000	1 in 5034 1 in 7413 1 in 1645 1 in 3617 1 in 5621	1 in 1912 1 in 2812 1 in 624 1 in 1372 1 in 2132	1 in 5034 1 in 7413 1 in 1645 1 in 3617 1 in 5621	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PUS1	Myopathy, lactic acidosis, and sideroblastic anemia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 4,496 1 in 1468 1 in 8209 1 in 178 1 in 1297 <1 in 500	1 in 5,722 1 in 1868 1 in 10448 1 in 227 1 in 1651 1 in 37633	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 161300 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 205291 <1 in 1,000,000 <1 in 1,000,000	1 in 22888 1 in 7473 1 in 41791 1 in 906 1 in 6603 1 in 150533	1 in 17984 1 in 5872 1 in 32836 1 in 712 1 in 5188 1 in 4516	1 in 22888 1 in 7473 1 in 41791 1 in 906 1 in 6603 1 in 150533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PYGM	McArdle disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 206 1 in 220 1 in 368 1 in 366 1 in 147 1 in 120	1 in 641 1 in 686 1 in 1148 1 in 1142 1 in 459 1 in 400	1 in 527854 1 in 604032 <1 in 1,000,000 <1 in 1,000,000 1 in 269680 1 in 192000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 841403 1 in 640000	1 in 2562 1 in 2746 1 in 4593 1 in 4568 1 in 1835 1 in 1600	1 in 824 1 in 880 1 in 1472 1 in 1464 1 in 588 1 in 480	1 in 2562 1 in 2746 1 in 4593 1 in 4568 1 in 1835 1 in 1600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
QDPR	Hyperphenylalaninemia, BH4-deficient, type C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,419 1 in 5766 1 in 9197 1 in 2641 1 in 8124	1 in 5,182 1 in 12356 1 in 19708 1 in 5659 1 in 17409	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 20730 1 in 49423 1 in 78831 1 in 22637 1 in 69634	1 in 9676 1 in 23064 1 in 36788 1 in 10564 1 in 32496	1 in 20730 1 in 49423 1 in 78831 1 in 22637 1 in 69634	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAB23	Carpenter syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 673 1 in 395 N/A N/A N/A	1 in 1,681 1 in 988 N/A N/A N/A	<1 in 1,000,000 <1 in 1,000,000 N/A N/A N/A	<1 in 1,000,000 <1 in 1,000,000 N/A N/A N/A	1 in 6724 1 in 3950 N/A N/A N/A	1 in 2692 1 in 1580 N/A N/A N/A	1 in 6724 1 in 3950 N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAG1	Omenn syndrome; Severe combined immunodeficiency, B cell-negative	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 344 1 in 441 1 in 523 1 in 639 1 in 1109	1 in 614 1 in 788 1 in 934 1 in 1141 1 in 1980	1 in 844176 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2454 1 in 3150 1 in 3736 1 in 4564 1 in 7921	1 in 1376 1 in 1764 1 in 2092 1 in 2556 1 in 4436	1 in 2454 1 in 3150 1 in 3736 1 in 4564 1 in 7921	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAG2	Omenn syndrome; Severe combined immunodeficiency, B cell-negative	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,925 1 in 953 N/A 1 in 962 N/A 1 in 821	1 in 3,721 1 in 1842 N/A 1 in 1860 N/A 1 in 82100	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A <1 in 1,000,000	1 in 14883 1 in 7370 N/A 1 in 7439 N/A 1 in 328400	1 in 7700 1 in 3812 N/A 1 in 3848 N/A 1 in 3284	1 in 14883 1 in 7370 N/A 1 in 7439 N/A 1 in 328400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAPSN	Fetal akinesia deformation sequence, type 2; Myasthenic syndrome, congenital, type 11, associated with AChR deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 165 1 in 1255 1 in 471 1 in 549 1 in 429 1 in 253	1 in 312 1 in 2378 1 in 892 1 in 1040 1 in 813 1 in 25300	1 in 205746 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 388719 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1247 1 in 9512 1 in 3570 1 in 4161 1 in 3251 1 in 101200	1 in 660 1 in 5020 1 in 1884 1 in 2196 1 in 1716 1 in 1012	1 in 1247 1 in 9512 1 in 3570 1 in 4161 1 in 3251 1 in 101200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RARS2	Pontocerebellar hypoplasia, type 6	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 269 1 in 109 1 in 70 1 in 260 1 in 158 1 in 89	1 in 365 1 in 148 1 in 95 1 in 353 1 in 214 1 in 2967	1 in 392433 1 in 64497 1 in 26600 1 in 366971 1 in 135519 <1 in 1,000,000	1 in 532066 1 in 87531 1 in 36100 1 in 498033 1 in 183918 <1 in 1,000,000	1 in 1459 1 in 592 1 in 380 1 in 1411 1 in 858 1 in 11867	1 in 1076 1 in 436 1 in 280 1 in 1040 1 in 632 1 in 356	1 in 1459 1 in 592 1 in 380 1 in 1411 1 in 858 1 in 11867	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAX	Isolated microphthalmia, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 475 N/A N/A N/A N/A	1 in 302100 N/A N/A N/A N/A	1 in 902500 N/A N/A N/A N/A	1 in 1900 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 1900 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RDH12	Leber congenital amaurosis, type 13	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 456 1 in 302 1 in 877 1 in 549 1 in 290	1 in 696 1 in 461 1 in 1340 1 in 839 1 in 443	<1 in 1,000,000 1 in 557358 <1 in 1,000,000 <1 in 1,000,000 1 in 513944	<1 in 1,000,000 1 in 851519 <1 in 1,000,000 <1 in 1,000,000 1 in 785193	1 in 2785 1 in 1846 1 in 5359 1 in 3355 1 in 1772	1 in 1824 1 in 1208 1 in 3508 1 in 2196 1 in 1160	1 in 2785 1 in 1846 1 in 5359 1 in 3355 1 in 1772	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RMRP	Anauxetic dysplasia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 143 1 in 303 1 in 413 1 in 294 1 in 719	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 572 1 in 1212 1 in 1652 1 in 1176 1 in 2876	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RNASEH2C	Aicardi-Goutieres syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,525 1 in 4272 1 in 2928 1 in 374 1 in 2703	1 in 3,557 1 in 9968 1 in 6832 1 in 873 1 in 6307	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14228 1 in 39872 1 in 27328 1 in 3491 1 in 25228	1 in 6100 1 in 17088 1 in 11712 1 in 1496 1 in 10812	1 in 14228 1 in 39872 1 in 27328 1 in 3491 1 in 25228	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RP2	Retinitis pigmentosa, type 2, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 177,778 N/A N/A N/A N/A	1 in 249,736 N/A N/A N/A N/A	1 in 998943 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
RPE65	RPE65-related Leber congenital amaurosis/early-onset severe retinal dystrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 366 1 in 190 1 in 289 1 in 265 1 in 345 <1 in 500 1 in 90	1 in 496 1 in 258 1 in 392 1 in 360 1 in 468 1 in 164167 1 in 3000	1 in 726667 1 in 195971 1 in 453400 1 in 381221 1 in 646136 <1 in 1,000,000 <1 in 1,000,000	1 in 985482 1 in 265961 1 in 615328 1 in 517372 1 in 876898 <1 in 1,000,000 <1 in 1,000,000	1 in 1985 1 in 1031 1 in 1569 1 in 1439 1 in 1873 1 in 656667 1 in 12000	1 in 1464 1 in 760 1 in 1156 1 in 1060 1 in 1380 1 in 19700 1 in 360	1 in 1985 1 in 1031 1 in 1569 1 in 1439 1 in 1873 1 in 656667 1 in 12000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RPGR	Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1	X-linked	General African/African American East Asian South Asian Latino	1 in 31,373 N/A N/A N/A N/A	1 in 35,705 N/A N/A N/A N/A	1 in 142819 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
RPGRIP1L	Joubert syndrome, type 7; Meckel syndrome, type 5; COACH syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 319 1 in 257 1 in 197 1 in 528 1 in 619	1 in 860 1 in 694 1 in 532 1 in 1426 1 in 1671	<1 in 1,000,000 1 in 713329 1 in 419137 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3438 1 in 2776 1 in 2128 1 in 5702 1 in 6685	1 in 1276 1 in 1028 1 in 788 1 in 2112 1 in 2476	1 in 3438 1 in 2776 1 in 2128 1 in 5702 1 in 6685	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RS1	Retinoschisis	X-linked	Caucasian/European African/African American East Asian South Asian Latino	1 in 25,000 1 in 25000 N/A N/A 1 in 25000	1 in 44,241 1 in 44242 N/A N/A 1 in 44242	1 in 176965 1 in 176968 N/A N/A 1 in 176968	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
RTEL1	Dyskeratosis congenita, autosomal recessive type 5	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 800 1 in 756 1 in 385 1 in 730 1 in 1385 ≤1 in 165	N/A N/A N/A N/A N/A 1 in 6068	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A 1 in 24272	1 in 3200 1 in 3024 1 in 1540 1 in 2920 1 in 5540 1 in 728	N/A N/A N/A N/A N/A 1 in 24272	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SACS	Spastic ataxia, Charlevoix-Saguenay, type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 100 1 in 201 1 in 338 1 in 383 1 in 309	1 in 146 1 in 295 1 in 496 1 in 562 1 in 453	1 in 58502 1 in 237108 1 in 670481 1 in 860896 1 in 560364	1 in 85561 1 in 347887 1 in 983739 <1 in 1,000,000 1 in 822173	1 in 585 1 in 1180 1 in 1984 1 in 2248 1 in 1813	1 in 400 1 in 804 1 in 1352 1 in 1532 1 in 1236	1 in 585 1 in 1180 1 in 1984 1 in 2248 1 in 1813	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SAG	Oguchi disease, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SAMHD1	Aicardi-Goutieres syndrome, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 610 1 in 2428 1 in 355 1 in 3837 1 in 2032	1 in 1,147 1 in 4570 1 in 668 1 in 7223 1 in 3825	<1 in 1,000,000 <1 in 1,000,000 1 in 948894 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4589 1 in 18281 1 in 2673 1 in 28890 1 in 15300	1 in 2440 1 in 9712 1 in 1420 1 in 15348 1 in 8128	1 in 4589 1 in 18281 1 in 2673 1 in 28890 1 in 15300	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SBDS	Shwachman-Diamond syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 224 N/A N/A N/A N/A	1 in 804 N/A N/A N/A N/A	1 in 720900 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3217 N/A N/A N/A N/A	1 in 896 N/A N/A N/A N/A	1 in 3217 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SEPSECS	Pontocerebellar hypoplasia, type 2D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 656 1 in 711 1 in 154 1 in 470 1 in 672 <1 in 500 1 in 41	1 in 743 1 in 806 1 in 175 1 in 533 1 in 762 1 in 55500 1 in 1367	<1 in 1,000,000 <1 in 1,000,000 1 in 107513 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 224133	<1 in 1,000,000 <1 in 1,000,000 1 in 121848 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2973 1 in 3223 1 in 698 1 in 2131 1 in 3046 1 in 222000 1 in 5467	1 in 2624 1 in 2844 1 in 616 1 in 1880 1 in 2688 1 in 6660 1 in 164	1 in 2973 1 in 3223 1 in 698 1 in 2131 1 in 3046 1 in 222000 1 in 5467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SERPINA1	Alpha-1 antitrypsin deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 24 1 in 35 N/A N/A 1 in 35	<1 in 469 1 in 700 N/A N/A 1 in 700	1 in 45754 1 in 98000 N/A N/A 1 in 98000	1 in 879453 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 1876 1 in 2800 N/A N/A 1 in 2800	1 in 98 1 in 140 N/A N/A 1 in 140	1 in 1876 1 in 2800 N/A N/A 1 in 2800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGCA	Limb-girdle muscular dystrophy, type 3 (LGMD R3)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 288 1 in 427 1 in 2202 1 in 1539 1 in 951	1 in 1,938 1 in 2882 1 in 14864 1 in 10388 1 in 6419	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7753 1 in 11529 1 in 59454 1 in 41553 1 in 25677	1 in 1152 1 in 1708 1 in 8808 1 in 6156 1 in 3804	1 in 7753 1 in 11529 1 in 59454 1 in 41553 1 in 25677	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGCB	Limb-girdle muscular dystrophy, type 4 (LGMD R4)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 628 1 in 653 1 in 1437 1 in 373 1 in 3358	1 in 2,330 1 in 2425 1 in 5337 1 in 1385 1 in 12473	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9319 1 in 9702 1 in 21350 1 in 5542 1 in 49890	1 in 2512 1 in 2612 1 in 5748 1 in 1492 1 in 13432	1 in 9319 1 in 9702 1 in 21350 1 in 5542 1 in 49890	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGCD	Limb-girdle muscular dystrophy, type 6 (LGMD R6)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 3,766 1 in 3799 1 in 6454 1 in 6537 1 in 1897	1 in 11,296 1 in 11397 1 in 19362 1 in 19611 1 in 5691	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 45184 1 in 45588 1 in 77448 1 in 78444 1 in 22764	1 in 15064 1 in 15196 1 in 25816 1 in 26148 1 in 7588	1 in 45184 1 in 45588 1 in 77448 1 in 78444 1 in 22764	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGCG	Limb-girdle muscular dystrophy, type 5 (LGMD R5)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,132 1 in 828 1 in 380 1 in 2955 1 in 2105	1 in 5,468 1 in 4002 1 in 1837 1 in 14283 1 in 10174	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 21870 1 in 16008 1 in 7347 1 in 57130 1 in 40697	1 in 4528 1 in 3312 1 in 1520 1 in 11820 1 in 8420	1 in 21870 1 in 16008 1 in 7347 1 in 57130 1 in 40697	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGSH	Mucopolysaccharidosis, type 3A (Sanfilippo A)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 253 1 in 470 1 in 216 1 in 459 1 in 436	1 in 1,261 1 in 2350 1 in 1080 1 in 2295 1 in 2180	<1 in 1,000,000 <1 in 1,000,000 1 in 933120 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5044 1 in 9400 1 in 4320 1 in 9180 1 in 8720	1 in 1012 1 in 1880 1 in 864 1 in 1836 1 in 1744	1 in 5044 1 in 9400 1 in 4320 1 in 9180 1 in 8720	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SH2D1A	Lymphoproliferative syndrome, X-linked, type 1	X-linked	General African/African American East Asian South Asian Latino	<1 in 500,000 N/A N/A N/A N/A	<1 in 829,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
SH3TC2	Charcot-Marie-Tooth disease, type 4C	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 72 N/A N/A N/A N/A	1 in 184 N/A N/A N/A N/A	1 in 52869 N/A N/A N/A N/A	1 in 134794 N/A N/A N/A N/A	1 in 734 N/A N/A N/A N/A	1 in 288 N/A N/A N/A N/A	1 in 734 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC12A3	Gitelman syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 73 1 in 138 1 in 28 1 in 145 1 in 131	1 in 97 1 in 184 1 in 37 1 in 193 1 in 175	1 in 28324 1 in 101568 1 in 4181 1 in 112133 1 in 91525	1 in 37636 1 in 135424 1 in 5575 1 in 149511 1 in 122034	1 in 388 1 in 736 1 in 149 1 in 773 1 in 699	1 in 292 1 in 552 1 in 112 1 in 580 1 in 524	1 in 388 1 in 736 1 in 149 1 in 773 1 in 699	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,515 1 in 500 1 in 2872 1 in 2564 1 in 764	1 in 151,401 1 in 50000 1 in 287200 1 in 256400 1 in 76400	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 605604 1 in 200000 <1 in 1,000,000 <1 in 1,000,000 1 in 305600	1 in 6060 1 in 2000 1 in 11488 1 in 10256 1 in 3056	1 in 605604 1 in 200000 <1 in 1,000,000 <1 in 1,000,000 1 in 305600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC16A2	Allan-Herndon-Dudley syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	1 in 67,647 N/A N/A N/A N/A	1 in 270587 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
SLC17A5	Salla disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 328 1 in 853 1 in 1723 1 in 3847 1 in 777	1 in 32,701 1 in 85300 1 in 172300 1 in 384700 1 in 77700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 130804 1 in 341200 1 in 689200 <1 in 1,000,000 1 in 310800	1 in 1312 1 in 3412 1 in 6892 1 in 15388 1 in 3108	1 in 130804 1 in 341200 1 in 689200 <1 in 1,000,000 1 in 310800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC19A2	Thiamine-responsive megaloblastic anemia syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 888 1 in 889 N/A N/A 1 in 889	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 3552 1 in 3556 N/A N/A 1 in 3556	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 3552 1 in 3556 N/A N/A 1 in 3556	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC22A5	Carnitine deficiency, systemic primary	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 251 1 in 98 1 in 69 1 in 51 1 in 268	1 in 544 1 in 213 1 in 150 1 in 111 1 in 582	1 in 546162 1 in 83437 1 in 41363 1 in 22597 1 in 623991	<1 in 1,000,000 1 in 181222 1 in 89837 1 in 49079 <1 in 1,000,000	1 in 2176 1 in 851 1 in 599 1 in 443 1 in 2328	1 in 1004 1 in 392 1 in 276 1 in 204 1 in 1072	1 in 2176 1 in 851 1 in 599 1 in 443 1 in 2328	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC25A13	Citrullinemia, type 2, neonatal-onset; Citrullinemia, type 2, adult-onset	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 619 1 in 435 1 in 48 1 in 496 1 in 990	1 in 1,426 1 in 1003 1 in 111 1 in 1143 1 in 2282	<1 in 1,000,000 <1 in 1,000,000 1 in 21244 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 48968 <1 in 1,000,000 <1 in 1,000,000	1 in 5702 1 in 4011 1 in 443 1 in 4573 1 in 9128	1 in 2476 1 in 1740 1 in 192 1 in 1984 1 in 3960	1 in 5702 1 in 4011 1 in 443 1 in 4573 1 in 9128	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,283 1 in 898 1 in 302 1 in 1924 1 in 1119	1 in 4,820 1 in 3375 1 in 1135 1 in 7232 1 in 4206	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 19279 1 in 13502 1 in 4541 1 in 28928 1 in 16824	1 in 5132 1 in 3592 1 in 1208 1 in 7696 1 in 4476	1 in 19279 1 in 13502 1 in 4541 1 in 28928 1 in 16824	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC25A20	Carnitine-acylcarnitine translocase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,988 1 in 1902 1 in 485 1 in 2188 1 in 808	1 in 7,949 1 in 7608 1 in 1940 1 in 8752 1 in 3232	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 31796 1 in 30432 1 in 7760 1 in 35008 1 in 12928	1 in 7952 1 in 7608 1 in 1940 1 in 8752 1 in 3232	1 in 31796 1 in 30432 1 in 7760 1 in 35008 1 in 12928	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC26A2	Achondrogenesis, type 1B (diastrophic dysplasia)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 129 1 in 341 1 in 510 1 in 853 1 in 248	1 in 428 1 in 1137 1 in 1700 1 in 2843 1 in 827	1 in 220676 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 820053	1 in 731595 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1711 1 in 4547 1 in 6800 1 in 11373 1 in 3307	1 in 516 1 in 1364 1 in 2040 1 in 3412 1 in 992	1 in 1711 1 in 4547 1 in 6800 1 in 11373 1 in 3307	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC26A3	Diarrhea 1, secretory chloride, congenital	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC26A4	Deafness, autosomal recessive, type 4; Pendred syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 88 1 in 76 1 in 31 1 in 60 1 in 135	1 in 403 1 in 351 1 in 143 1 in 277 1 in 624	1 in 141885 1 in 106778 1 in 17766 1 in 66551 1 in 336916	1 in 649897 1 in 493487 1 in 82105 1 in 307575 <1 in 1,000,000	1 in 1612 1 in 1405 1 in 573 1 in 1109 1 in 2496	1 in 352 1 in 304 1 in 124 1 in 240 1 in 540	1 in 1612 1 in 1405 1 in 573 1 in 1109 1 in 2496	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC35A1	Congenital disorder of glycosylation, type 2F	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,500 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5998 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 5998 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC35A3	?Arthrogryposis, mental retardation, and seizures	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 4,537 1 in 3999 N/A 1 in 3996 1 in 3356 1 in 453	1 in 6,805 1 in 5999 N/A 1 in 5994 1 in 5034 1 in 15100	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 27220 1 in 23994 N/A 1 in 23976 1 in 20136 1 in 60400	1 in 18148 1 in 15996 N/A 1 in 15984 1 in 13424 1 in 1812	1 in 27220 1 in 23994 N/A 1 in 23976 1 in 20136 1 in 60400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC35C1	Congenital disorder of glycosylation, type 2C	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC35D1	Schneckenbecken dysplasia	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC37A4	Glycogen storage disease, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 597 1 in 1414 1 in 511 1 in 821 1 in 979	1 in 1,677 1 in 3646 1 in 1318 1 in 2117 1 in 2525	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6709 1 in 14586 1 in 5271 1 in 8469 1 in 10099	1 in 2388 1 in 5656 1 in 2044 1 in 3284 1 in 3916	1 in 6709 1 in 14586 1 in 5271 1 in 8469 1 in 10099	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC39A4	Acrodermatitis enteropathica	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 316 1 in 421 1 in 1248 1 in 1099 1 in 1300	1 in 335 1 in 468 1 in 1387 1 in 1221 1 in 1444	1 in 422845 1 in 787738 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 447640 1 in 875264 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1338 1 in 1871 1 in 5547 1 in 4884 1 in 5778	1 in 1264 1 in 1684 1 in 4992 1 in 4396 1 in 5200	1 in 1338 1 in 1871 1 in 5547 1 in 4884 1 in 5778	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC3A1	Cystinuria	Autosomal recessive*	General African/African American East Asian South Asian Latino	1 in 42 N/A N/A N/A N/A	1 in 84 N/A N/A N/A N/A	1 in 14171 N/A N/A N/A N/A	1 in 28008 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 169 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC45A2	Albinism, oculocutaneous, type 4	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,600 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6398 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 6398 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC46A1	Folate malabsorption, hereditary	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,468 1 in 2698 1 in 1773 1 in 1256 1 in 3964	1 in 13,981 1 in 15289 1 in 10047 1 in 7117 1 in 22463	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 55923 1 in 61155 1 in 40188 1 in 28469 1 in 89851	1 in 9872 1 in 10792 1 in 7092 1 in 5024 1 in 15856	1 in 55923 1 in 61155 1 in 40188 1 in 28469 1 in 89851	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC4A11	Corneal endothelial dystrophy, autosomal recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 806 1 in 373 1 in 316 1 in 1183 1 in 770	1 in 1,921 1 in 889 1 in 754 1 in 2821 1 in 1836	<1 in 1,000,000 <1 in 1,000,000 1 in 952473 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7682 1 in 3558 1 in 3014 1 in 11284 1 in 7345	1 in 3224 1 in 1492 1 in 1264 1 in 4732 1 in 3080	1 in 7682 1 in 3558 1 in 3014 1 in 11284 1 in 7345	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC5A5	Thyroid dyshormonogenesis, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 72 N/A N/A N/A N/A	1 in 96 N/A N/A N/A N/A	1 in 27552 N/A N/A N/A N/A	1 in 36608 N/A N/A N/A N/A	1 in 383 N/A N/A N/A N/A	1 in 288 N/A N/A N/A N/A	1 in 383 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC6A19	Hartnup disorder	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 87 N/A N/A N/A N/A	1 in 124 N/A N/A N/A N/A	1 in 43207 N/A N/A N/A N/A	1 in 61512 N/A N/A N/A N/A	1 in 496 N/A N/A N/A N/A	1 in 348 N/A N/A N/A N/A	1 in 496 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC6A8	Cerebral creatine deficiency syndrome, type 1	X-linked	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
SLC7A7	Lysinuric protein intolerance	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 522 1 in 595 1 in 724 1 in 1283 1 in 2821	1 in 1,490 1 in 1700 1 in 2069 1 in 3666 1 in 8060	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5958 1 in 6800 1 in 8274 1 in 14663 1 in 32240	1 in 2088 1 in 2380 1 in 2896 1 in 5132 1 in 11284	1 in 5958 1 in 6800 1 in 8274 1 in 14663 1 in 32240	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC7A9	Cystinuria	Autosomal recessive*	General African/African American East Asian South Asian Latino	1 in 42 N/A N/A N/A N/A	1 in 48 N/A N/A N/A N/A	1 in 8208 N/A N/A N/A N/A	1 in 9395 N/A N/A N/A N/A	1 in 194 N/A N/A N/A N/A	1 in 169 N/A N/A N/A N/A	1 in 194 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SMARCAL1	Schimke immunoosseous dysplasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 451 1 in 699 1 in 561 1 in 2565 1 in 2123	1 in 970 1 in 1506 1 in 1208 1 in 5525 1 in 4573	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3881 1 in 6022 1 in 4833 1 in 22098 1 in 18290	1 in 1804 1 in 2796 1 in 2244 1 in 10260 1 in 8492	1 in 3881 1 in 6022 1 in 4833 1 in 22098 1 in 18290	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SMN1	Spinal muscular atrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 36 1 in 72 1 in 53 1 in 103 1 in 68 1 in 53	1 in 869 1 in 244 1 in 757 1 in 792 1 in 680 1 in 565	1 in 124122 1 in 70292 1 in 160514 1 in 326431 1 in 184960 1 in 115013	<1 in 1,000,000 1 in 238276 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3475 1 in 976 1 in 3029 1 in 3169 1 in 2720 1 in 2261	1 in 143 1 in 288 1 in 212 1 in 412 1 in 272 1 in 203	1 in 3475 1 in 976 1 in 3029 1 in 3169 1 in 2720 1 in 2261	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SMPD1	Niemann-Pick disease, type A; Niemann-Pick disease, type B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 350 1 in 120 1 in 81 1 in 327 1 in 106 1 in 103	1 in 1,556 1 in 535 1 in 361 1 in 1457 1 in 472 1 in 3366	<1 in 1,000,000 1 in 256582 1 in 116905 <1 in 1,000,000 1 in 200205 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 520759 <1 in 1,000,000 1 in 891823 <1 in 1,000,000	1 in 6223 1 in 2138 1 in 1443 1 in 5827 1 in 1889 1 in 13463	1 in 1400 1 in 480 1 in 324 1 in 1308 1 in 424 1 in 404	1 in 6223 1 in 2138 1 in 1443 1 in 5827 1 in 1889 1 in 13463	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SPG11	Amyotrophic lateral sclerosis, type 5, juvenile	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 192 1 in 232 1 in 297 1 in 267 1 in 64	1 in 467 1 in 566 1 in 725 1 in 652 1 in 156	1 in 358757 1 in 525425 1 in 861088 1 in 695916 1 in 39985	1 in 872845 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 97582	1 in 1869 1 in 2265 1 in 2899 1 in 2606 1 in 625	1 in 768 1 in 928 1 in 1188 1 in 1068 1 in 256	1 in 1869 1 in 2265 1 in 2899 1 in 2606 1 in 625	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SPG7	Spastic paraplegia, type 7, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 183 N/A N/A N/A N/A	1 in 58265 N/A N/A N/A N/A	1 in 133654 N/A N/A N/A N/A	1 in 731 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 731 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SRD5A2	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias)	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ST3GAL5	Salt and pepper developmental regression syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
STAR	Lipoid adrenal hyperplasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,147 1 in 964 1 in 364 1 in 1399 1 in 731	1 in 14,326 1 in 12050 1 in 4550 1 in 17488 1 in 9138	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 57304 1 in 48200 1 in 18200 1 in 69950 1 in 36550	1 in 4588 1 in 3856 1 in 1456 1 in 5596 1 in 2924	1 in 57304 1 in 48200 1 in 18200 1 in 69950 1 in 36550	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SUMF1	Multiple sulfatase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 696 1 in 406 1 in 1437 1 in 834 1 in 1525 ≤1 in 279	1 in 2,665 1 in 1556 1 in 5509 1 in 3197 1 in 5846 1 in 9937	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10661 1 in 6225 1 in 22034 1 in 12788 1 in 23383 1 in 39746	1 in 2784 1 in 1624 1 in 5748 1 in 3336 1 in 6100 1 in 1192	1 in 10661 1 in 6225 1 in 22034 1 in 12788 1 in 23383 1 in 39746	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SURF1	Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 191 1 in 256 1 in 61 1 in 302 1 in 89	1 in 329 1 in 441 1 in 105 1 in 521 1 in 153	1 in 251040 1 in 451972 1 in 25662 1 in 628993 1 in 54628	1 in 431876 1 in 779263 1 in 44245 <1 in 1,000,000 1 in 94185	1 in 1314 1 in 1766 1 in 421 1 in 2083 1 in 614	1 in 764 1 in 1024 1 in 244 1 in 1208 1 in 356	1 in 1314 1 in 1766 1 in 421 1 in 2083 1 in 614	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 55,588 N/A N/A N/A N/A	1 in 222352 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
TAT	Tyrosinemia, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,190 1 in 5587 1 in 4450 1 in 2190 1 in 8126	1 in 5,352 1 in 13657 1 in 10878 1 in 5353 1 in 19864	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 21408 1 in 54628 1 in 43511 1 in 21413 1 in 79454	1 in 8760 1 in 22348 1 in 17800 1 in 8760 1 in 32504	1 in 21408 1 in 54628 1 in 43511 1 in 21413 1 in 79454	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TCIRG1	Osteopetrosis, autosomal recessive, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 399 1 in 418 1 in 323 1 in 749 1 in 414 ≤1 in 350	1 in 1,195 1 in 1254 1 in 969 1 in 2247 1 in 1242 1 in 4087	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4780 1 in 5016 1 in 3876 1 in 8988 1 in 4968 1 in 16347	1 in 1596 1 in 1672 1 in 1292 1 in 2996 1 in 1656 1 in 1635	1 in 4780 1 in 5016 1 in 3876 1 in 8988 1 in 4968 1 in 16347	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TECPR2	Spastic paraplegia, type 49, autosomal recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,946 1 in 5649 1 in 823 1 in 5103 1 in 1983 1 in 152	N/A N/A N/A N/A N/A 1 in 5067	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A 1 in 20267	1 in 7784 1 in 22596 1 in 3292 1 in 20412 1 in 7932 1 in 608	N/A N/A N/A N/A N/A 1 in 20267	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TFR2	Hemochromatosis, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 604 1 in 761 1 in 2749 1 in 1259 1 in 378	1 in 1,885 1 in 2378 1 in 8591 1 in 3934 1 in 1181	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7542 1 in 9513 1 in 34363 1 in 15738 1 in 4725	1 in 2416 1 in 3044 1 in 10996 1 in 5036 1 in 1512	1 in 7542 1 in 9513 1 in 34363 1 in 15738 1 in 4725	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TG	Thyroid dyshormonogenesis, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 268 N/A N/A N/A N/A	1 in 170210 N/A N/A N/A N/A	1 in 286493 N/A N/A N/A N/A	1 in 1071 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 1071 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TGM1	Ichthyosis, congenital, autosomal recessive, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 186 1 in 205 1 in 279 1 in 79 1 in 562	1 in 758 1 in 839 1 in 1141 1 in 323 1 in 2299	1 in 563817 1 in 687682 <1 in 1,000,000 1 in 102125 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 417786 <1 in 1,000,000	1 in 3031 1 in 3355 1 in 4565 1 in 1293 1 in 9196	1 in 744 1 in 820 1 in 1116 1 in 316 1 in 2248	1 in 3031 1 in 3355 1 in 4565 1 in 1293 1 in 9196	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TH	Segawa syndrome, recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 856 1 in 809 1 in 306 1 in 2145 1 in 1121	1 in 2,566 1 in 2427 1 in 918 1 in 6435 1 in 3363	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10264 1 in 9708 1 in 3672 1 in 25740 1 in 13452	1 in 3424 1 in 3236 1 in 1224 1 in 8580 1 in 4484	1 in 10264 1 in 9708 1 in 3672 1 in 25740 1 in 13452	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
THOC2	Mental retardation, X-linked 12	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
TMEM216	Joubert syndrome, type 2; Meckel syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,521 1 in 3364 N/A 1 in 3526 1 in 2035 1 in 92	1 in 152,001 1 in 336400 N/A 1 in 352600 1 in 203500 1 in 9200	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 608004 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 814000 1 in 36800	1 in 6084 1 in 13456 N/A 1 in 14104 1 in 8140 1 in 368	1 in 608004 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 814000 1 in 36800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TMEM67	Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 147 1 in 233 1 in 132 1 in 206 1 in 309	1 in 284 1 in 451 1 in 256 1 in 399 1 in 599	1 in 166919 1 in 420740 1 in 135036 1 in 328879 1 in 739978	1 in 322340 1 in 815183 1 in 261632 1 in 637203 <1 in 1,000,000	1 in 1136 1 in 1806 1 in 1023 1 in 1597 1 in 2395	1 in 588 1 in 932 1 in 528 1 in 824 1 in 1236	1 in 1136 1 in 1806 1 in 1023 1 in 1597 1 in 2395	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TMPRSS3	Deafness, autosomal recessive, type 8/10	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TPO	Thyroid dyshormonogenesis, type 2A	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 72 N/A N/A N/A N/A	1 in 84 N/A N/A N/A N/A	1 in 24144 N/A N/A N/A N/A	1 in 28112 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 288 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TPP1	Ceroid lipofuscinosis, neuronal, type 2; Spinocerebellar ataxia, autosomal recessive, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 266 1 in 833 1 in 1480 1 in 2199 1 in 568	1 in 1,591 1 in 4998 1 in 8880 1 in 13194 1 in 3408	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6364 1 in 19992 1 in 35520 1 in 52776 1 in 13632	1 in 1064 1 in 3332 1 in 5920 1 in 8796 1 in 2272	1 in 6364 1 in 19992 1 in 35520 1 in 52776 1 in 13632	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 51 N/A N/A N/A N/A	1 in 71 N/A N/A N/A N/A	1 in 14484 N/A N/A N/A N/A	1 in 20164 N/A N/A N/A N/A	1 in 284 N/A N/A N/A N/A	1 in 204 N/A N/A N/A N/A	1 in 284 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TREX1	Aicardi-Goutieres syndrome, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 98 N/A N/A N/A N/A	1 in 186 N/A N/A N/A N/A	1 in 73260 N/A N/A N/A N/A	1 in 138869 N/A N/A N/A N/A	1 in 745 N/A N/A N/A N/A	1 in 393 N/A N/A N/A N/A	1 in 745 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRIM32	Limb-girdle muscular dystrophy, type 8 (LGMD R8)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 226 1 in 665 1 in 920 1 in 300 1 in 674	1 in 376 1 in 1108 1 in 1533 1 in 500 1 in 1123	1 in 339904 <1 in 1,000,000 <1 in 1,000,000 1 in 600000 <1 in 1,000,000	1 in 565504 <1 in 1,000,000 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000	1 in 1504 1 in 4433 1 in 6133 1 in 2000 1 in 4493	1 in 904 1 in 2660 1 in 3680 1 in 1200 1 in 2696	1 in 1504 1 in 4433 1 in 6133 1 in 2000 1 in 4493	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRIM37	Mulibrey nanism	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRMU	Liver failure, transient infantile	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 789 1 in 1045 1 in 920 1 in 300 1 in 606 1 in 1232 1 in 34	1 in 1,001 1 in 1326 1 in 1168 1 in 381 1 in 769 1 in 41067 1 in 170	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 456923 <1 in 1,000,000 <1 in 1,000,000 1 in 23120	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 579941 <1 in 1,000,000 <1 in 1,000,000 1 in 115600	1 in 4005 1 in 5305 1 in 4671 1 in 1523 1 in 3077 1 in 164267 1 in 680	1 in 3156 1 in 4180 1 in 3680 1 in 1200 1 in 2424 1 in 4928 1 in 136	1 in 4005 1 in 5305 1 in 4671 1 in 1523 1 in 3077 1 in 164267 1 in 680	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSEN54	Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 223 1 in 491 1 in 186 1 in 686 1 in 260	1 in 3,997 1 in 8838 1 in 3348 1 in 12348 1 in 4680	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15988 1 in 35352 1 in 13392 1 in 49392 1 in 18720	1 in 892 1 in 1964 1 in 744 1 in 2744 1 in 1040	1 in 15988 1 in 35352 1 in 13392 1 in 49392 1 in 18720	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSFM	Combined oxidative phosphorylation deficiency, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 535 1 in 681 N/A N/A 1 in 1796	1 in 611 1 in 778 N/A N/A 1 in 2053	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2445 1 in 3113 N/A N/A 1 in 8210	1 in 2140 1 in 2724 N/A N/A 1 in 7184	1 in 2445 1 in 3113 N/A N/A 1 in 8210	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSHB	Hypothyroidism, congenital, nongoitrous, type 4	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	1 in 306 N/A N/A N/A N/A	1 in 75675 N/A N/A N/A N/A	1 in 373488 N/A N/A N/A N/A	1 in 1222 N/A N/A N/A N/A	1 in 248 N/A N/A N/A N/A	1 in 1222 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSHR	Hypothyroidism, congenital, nongoitrous, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	1 in 189 N/A N/A N/A N/A	1 in 46876 N/A N/A N/A N/A	1 in 143306 N/A N/A N/A N/A	1 in 757 N/A N/A N/A N/A	1 in 248 N/A N/A N/A N/A	1 in 757 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TTC37	Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 634 1 in 640 1 in 171 1 in 213 1 in 625	1 in 951 1 in 960 1 in 257 1 in 320 1 in 938	<1 in 1,000,000 <1 in 1,000,000 1 in 175446 1 in 272214 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 263169 1 in 408321 <1 in 1,000,000	1 in 3802 1 in 3840 1 in 1026 1 in 1278 1 in 3750	1 in 2536 1 in 2560 1 in 684 1 in 852 1 in 2500	1 in 3802 1 in 3840 1 in 1026 1 in 1278 1 in 3750	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TTPA	Ataxia with isolated vitamin E deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 607 1 in 319 N/A 1 in 2403 1 in 1293	1 in 3,637 1 in 1914 N/A 1 in 14418 1 in 7758	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 14548 1 in 7656 N/A 1 in 57672 1 in 31032	1 in 2428 1 in 1276 N/A 1 in 9612 1 in 5172	1 in 14548 1 in 7656 N/A 1 in 57672 1 in 31032	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TYMP	Mitochondrial DNA depletion syndrome, type 1 (MNGIE type)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 425 1 in 287 1 in 2873 1 in 1834 1 in 647 1 in 828 1 in 158	1 in 1,014 1 in 686 1 in 6867 1 in 4384 1 in 1546 1 in 27600 1 in 5267	<1 in 1,000,000 1 in 787528 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4058 1 in 2744 1 in 27469 1 in 17535 1 in 6186 1 in 110400 1 in 21067	1 in 1700 1 in 1148 1 in 11492 1 in 7336 1 in 2588 1 in 3312 1 in 632	1 in 4058 1 in 2744 1 in 27469 1 in 17535 1 in 6186 1 in 110400 1 in 21067	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TYR	Oculocutaneous albinism (OCA) type 1A; OCA type 1B	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 101 1 in 100 N/A N/A 1 in 100	1 in 681 1 in 683 N/A N/A 1 in 683	1 in 273742 1 in 273333 N/A N/A 1 in 273333	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2724 1 in 2733 N/A N/A 1 in 2733	1 in 402 1 in 400 N/A N/A 1 in 400	1 in 2724 1 in 2733 N/A N/A 1 in 2733	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TYRP1	Albinism, oculocutaneous, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,400 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5598 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 5598 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UBE3A	Angelman syndrome	Autosomal dominant	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 249 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UGT1A1	Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 5,496 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 21982 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 21982 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UNC13D	Hemophagocytic lymphohistiocytosis, familial, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 108 1 in 258 1 in 106 1 in 186 1 in 110	1 in 202 1 in 486 1 in 200 1 in 350 1 in 207	1 in 87442 1 in 501188 1 in 84600 1 in 260488 1 in 91106	1 in 163882 1 in 943412 1 in 159248 1 in 490329 1 in 171493	1 in 810 1 in 1943 1 in 798 1 in 1400 1 in 828	1 in 432 1 in 1032 1 in 424 1 in 744 1 in 440	1 in 810 1 in 1943 1 in 798 1 in 1400 1 in 828	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UPF3B	Mental retardation, X-linked, syndromic, type 14	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 49,500 N/A N/A N/A N/A	1 in 198000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
USH1C	Usher syndrome, type 1C; Deafness, autosomal recessive, type 18A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 257 1 in 48 1 in 154 1 in 485 1 in 526	1 in 902 1 in 169 1 in 542 1 in 1707 1 in 1852	1 in 927379 1 in 32440 1 in 333921 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 114190 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3608 1 in 676 1 in 2168 1 in 6829 1 in 7406	1 in 1028 1 in 192 1 in 616 1 in 1940 1 in 2104	1 in 3608 1 in 676 1 in 2168 1 in 6829 1 in 7406	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
USH1G	Usher syndrome, type 1G	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 4,124 1 in 1724 1 in 1983 1 in 1531 1 in 4696	1 in 9,242 1 in 3864 1 in 4445 1 in 3432 1 in 10526	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 36969 1 in 15457 1 in 17779 1 in 13726 1 in 42102	1 in 16496 1 in 6896 1 in 7932 1 in 6124 1 in 18784	1 in 36969 1 in 15457 1 in 17779 1 in 13726 1 in 42102	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
USH2A	Usher syndrome, type 2A	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 60 1 in 69 1 in 27 1 in 68 1 in 51 1 in 40	1 in 173 1 in 199 1 in 78 1 in 196 1 in 147 1 in 800	1 in 41714 1 in 55001 1 in 8422 1 in 53419 1 in 30048 1 in 128000	1 in 119171 1 in 158850 1 in 24323 1 in 154279 1 in 86782 <1 in 1,000,000	1 in 690 1 in 797 1 in 312 1 in 786 1 in 589 1 in 3200	1 in 242 1 in 276 1 in 108 1 in 272 1 in 204 1 in 160	1 in 690 1 in 797 1 in 312 1 in 786 1 in 589 1 in 3200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VPS13A	Choreoacanthocytosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 341 1 in 321 1 in 204 1 in 540 1 in 466 1 in 628	1 in 488 1 in 460 1 in 292 1 in 774 1 in 668 1 in 31400	1 in 666087 1 in 590768 1 in 238598 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 953878 1 in 846768 1 in 341991 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1953 1 in 1840 1 in 1170 1 in 3096 1 in 2672 1 in 125600	1 in 1364 1 in 1284 1 in 816 1 in 2160 1 in 1864 1 in 2512	1 in 1953 1 in 1840 1 in 1170 1 in 3096 1 in 2672 1 in 125600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VPS13B	Cohen syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 224 1 in 500 1 in 255 1 in 313 1 in 500	1 in 610 1 in 1365 1 in 696 1 in 854 1 in 1365	1 in 546318 <1 in 1,000,000 1 in 710003 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2439 1 in 5459 1 in 2784 1 in 3418 1 in 5459	1 in 896 1 in 2000 1 in 1020 1 in 1252 1 in 2000	1 in 2439 1 in 5459 1 in 2784 1 in 3418 1 in 5459	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VPS45	Neutropenia, severe congenital, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,634 1 in 1120 1 in 1099 1 in 1703 1 in 3351	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 6536 1 in 4480 1 in 4396 1 in 6812 1 in 13404	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VPS53	Pontocerebellar hypoplasia, type 2E	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,506 1 in 2317 1 in 943 1 in 1549 1 in 1577	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 6024 1 in 9268 1 in 3772 1 in 6196 1 in 6308	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VRK1	Pontocerebellar hypoplasia, type 1A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 2,583 1 in 324 1 in 943 1 in 7488 1 in 8120 1 in 277	1 in 3,377 1 in 424 1 in 1233 1 in 9792 1 in 10618 1 in 1868	<1 in 1,000,000 1 in 549105 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 418598	<1 in 1,000,000 1 in 718061 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13510 1 in 1695 1 in 4933 1 in 39168 1 in 42474 1 in 7471	1 in 10332 1 in 1296 1 in 3772 1 in 29952 1 in 32480 1 in 224	1 in 13510 1 in 1695 1 in 4933 1 in 39168 1 in 42474 1 in 7471	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VSX2	Microphthalmia with coloboma 3; Isolated microphthalmia 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,337 1 in 1608 1 in 829 1 in 3960 1 in 2776 N/A 1 in 145	1 in 3,564 1 in 4288 1 in 2211 1 in 10560 1 in 7403 N/A 1 in 4833	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 14255 1 in 17152 1 in 8843 1 in 42240 1 in 29611 N/A 1 in 19333	1 in 5348 1 in 6432 1 in 3316 1 in 15840 1 in 11104 N/A 1 in 580	1 in 14255 1 in 17152 1 in 8843 1 in 42240 1 in 29611 N/A 1 in 19333	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
WAS	Wiskott-Aldrich syndrome; Thrombocytopenia, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
WHRN	Usher syndrome, type 2D; Deafness, autosomal recessive, type 31	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 93 1 in 5751 1 in 1526 1 in 940 1 in 2074	1 in 127 1 in 7842 1 in 2081 1 in 1282 1 in 2828	1 in 47150 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 64111 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 506 1 in 31369 1 in 8324 1 in 5127 1 in 11313	1 in 372 1 in 23004 1 in 6104 1 in 3760 1 in 8296	1 in 506 1 in 31369 1 in 8324 1 in 5127 1 in 11313	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
WNT10A	Odontoonychodermal dysplasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 216 1 in 766 1 in 594 1 in 952 1 in 869	1 in 324 1 in 1149 1 in 891 1 in 1428 1 in 1304	1 in 279504 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 418609 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1294 1 in 4596 1 in 3564 1 in 5712 1 in 5214	1 in 864 1 in 3064 1 in 2376 1 in 3808 1 in 3476	1 in 1294 1 in 4596 1 in 3564 1 in 5712 1 in 5214	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
WRN	Werner syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 474 1 in 491 1 in 253 1 in 355 1 in 979	1 in 681 1 in 705 1 in 364 1 in 510 1 in 1407	<1 in 1,000,000 <1 in 1,000,000 1 in 367868 1 in 724282 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 528546 <1 in 1,000,000 <1 in 1,000,000	1 in 2722 1 in 2822 1 in 1454 1 in 2040 1 in 5626	1 in 1896 1 in 1964 1 in 1012 1 in 1420 1 in 3916	1 in 2722 1 in 2822 1 in 1454 1 in 2040 1 in 5626	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
XPA	Xeroderma pigmentosum, group A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 718 1 in 1417 1 in 100 1 in 280 1 in 200	1 in 4,877 1 in 9636 1 in 680 1 in 1904 1 in 1360	<1 in 1,000,000 <1 in 1,000,000 1 in 272000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 19506 1 in 38542 1 in 2720 1 in 7616 1 in 5440	1 in 2872 1 in 5668 1 in 400 1 in 1120 1 in 800	1 in 19506 1 in 38542 1 in 2720 1 in 7616 1 in 5440	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
XPC	Xeroderma pigmentosum, group C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 440 1 in 123 1 in 2906 1 in 462 1 in 19	1 in 1,635 1 in 458 1 in 10817 1 in 1720 1 in 71	<1 in 1,000,000 1 in 225254 <1 in 1,000,000 <1 in 1,000,000 1 in 5375	<1 in 1,000,000 1 in 838445 <1 in 1,000,000 <1 in 1,000,000 1 in 20007	1 in 6540 1 in 1831 1 in 43267 1 in 6879 1 in 283	1 in 1760 1 in 492 1 in 11624 1 in 1848 1 in 76	1 in 6540 1 in 1831 1 in 43267 1 in 6879 1 in 283	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ZDHHC9	Mental retardation, X-linked syndromic, Raymond type	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 60,000 N/A N/A N/A N/A	1 in 239999 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ZFYVE26	Spastic paraplegia, type 15, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,600 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6426 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 6426 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ZNF711	Mental retardation, X-linked, type 97	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 54,000 N/A N/A N/A N/A	1 in 215999 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -

Gene	Condition	Inheritance	Ethnicity	Carrier Rate	Residual Risk	Patient - & Partner not tested	Patient - & Partner -	Patient - & Partner +	Patient + & Partner not tested	Patient + & Partner -	Patient + & Partner +
AAAS	Triple-A syndrome (achalasia-addisonianism-alacrimia)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 436 1 in 549 1 in 1313 1 in 365 1 in 221	1 in 8,266 1 in 10431 1 in 24947 1 in 6935 1 in 4199	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796	1 in 1744 1 in 2196 1 in 5252 1 in 1460 1 in 884	1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AARS1	Epileptic encephalopathy, early infantile, type 29	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AARS2	Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure	Autosomal recessive	General population	<1 in 500	<1 in 1091	<1 in 1,000,000	<1 in 1,000,000	<1 in 4363	<1 in 2000	<1 in 4363	1 in 4
AASS	Hyperlysinemia, type 1 and type 2	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ABAT	GABA-transaminase deficiency	Autosomal recessive	General population	<1 in 500	<1 in 917	<1 in 1,000,000	<1 in 1,000,000	<1 in 3667	<1 in 2000	<1 in 3667	1 in 4
ABCA1	Tangier disease	Autosomal recessive	General population	<1 in 500	<1 in 1583	<1 in 1,000,000	<1 in 1,000,000	<1 in 6331	<1 in 2000	<1 in 6331	1 in 4
ABCA12	Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 194 1 in 271 1 in 223 1 in 89 1 in 112	1 in 715 1 in 1003 1 in 825 1 in 329 1 in 414	1 in 554918 <1 in 1,000,000 1 in 735989 1 in 117231 1 in 185651	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 433754 1 in 686909	1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658	1 in 776 1 in 1084 1 in 892 1 in 356 1 in 448	1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCA3	Surfactant metabolism dysfunction, pulmonary, type 3	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ABCA4	Stargardt disease type 1; Cone-rod dystrophy type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	1 in 119 N/A N/A N/A N/A	1 in 29571 N/A N/A N/A N/A	1 in 56179 N/A N/A N/A N/A	1 in 474 N/A N/A N/A N/A	1 in 250 N/A N/A N/A N/A	1 in 474 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCB11	Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 276 1 in 295 1 in 153 1 in 654 1 in 390	1 in 614 1 in 658 1 in 341 1 in 1459 1 in 870	1 in 678366 1 in 776531 1 in 208880 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 465964 <1 in 1,000,000 <1 in 1,000,000	1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480	1 in 1104 1 in 1180 1 in 612 1 in 2616 1 in 1560	1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCB4	Cholestasis, progressive familial intrahepatic, type 3	Autosomal recessive	Caucasian/European population	1 in 60	1 in 133	1 in 31828	1 in 70347	1 in 530	1 in 240	1 in 530	1 in 4
ABCB7	X-linked sideroblastic anemia and ataxia (XLSA/A)	X-linked	General population	<1 in 500,000	<1 in 1749999	<1 in 1,000,000	-	-	1 in 4	-	-
ABCC2	Dubin-Johnson syndrome	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ABCC6	Pseudoxanthoma elasticum; Generalized arterial calcification of infancy, type 2	Autosomal recessive	General population	1 in 377	1 in 1005	<1 in 1,000,000	<1 in 1,000,000	1 in 4018	1 in 1507	1 in 4018	1 in 4
ABCC8	Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 192 1 in 256 1 in 119 1 in 364 1 in 285 1 in 55	1 in 1,690 1 in 2264 1 in 1052 1 in 3219 1 in 2520 1 in 1760	<1 in 1,000,000 <1 in 1,000,000 1 in 500852 <1 in 1,000,000 <1 in 1,000,000 1 in 371712	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040	1 in 768 1 in 1024 1 in 476 1 in 1456 1 in 1140 1 in 211	1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCD1	Adrenoleukodystrophy	X-linked	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 14,000 N/A 1 in 20000 N/A N/A N/A	1 in 28,579 N/A 1 in 40829 N/A N/A N/A	1 in 114316 N/A 1 in 163315 N/A N/A N/A	- - - - - -	- - - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - - -	- - - - - -
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 496 1 in 534 1 in 328 1 in 313 1 in 859	1 in 49,501 1 in 53400 1 in 32800 1 in 31300 1 in 85900	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600	1 in 1984 1 in 2136 1 in 1312 1 in 1252 1 in 3436	1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ABCG5	Sitosterolemia	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ABCG8	Sitosterolemia	Autosomal recessive	Caucasian/European population	1 in 301	1 in 2542	<1 in 1,000,000	<1 in 1,000,000	1 in 10169	1 in 1202	1 in 10169	1 in 4
ABHD12	PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract)	Autosomal recessive	General population	<1 in 500	<1 in 1214	<1 in 1,000,000	<1 in 1,000,000	<1 in 4856	<1 in 2000	<1 in 4856	1 in 4
ABHD5	Chanarin-Dorfman syndrome	Autosomal recessive	General population	<1 in 500	<1 in 813	<1 in 1,000,000	<1 in 1,000,000	<1 in 3251	<1 in 2000	<1 in 3251	1 in 4
ACAD8	Isobutyryl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACAD9	Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 309 1 in 784 1 in 2252 1 in 810 1 in 741	1 in 576 1 in 1463 1 in 4204 1 in 1512 1 in 1383	1 in 711854 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533	1 in 1236 1 in 3136 1 in 9008 1 in 3240 1 in 2964	1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADM	Medium-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 50 1 in 172 1 in 255 1 in 142 1 in 92 1 in 133	<1 in 488 1 in 1720 1 in 2550 1 in 1420 1 in 920 1 in 13300	1 in 96920 <1 in 1,000,000 <1 in 1,000,000 1 in 806560 1 in 338560 <1 in 1,000,000	1 in 951643 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200	1 in 199 1 in 688 1 in 1020 1 in 568 1 in 368 1 in 532	1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADS	Short-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 102 1 in 52 N/A 1 in 51 1 in 100	1 in 1,015 1 in 520 N/A 1 in 510 1 in 1000	1 in 415474 1 in 108160 N/A 1 in 104040 1 in 400000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000	1 in 409 1 in 208 N/A 1 in 204 1 in 400	1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADSB	Short/branched-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,125 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4500 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4500 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACADVL	Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 112 1 in 146 1 in 201 1 in 73 1 in 267	1 in 698 1 in 913 1 in 1256 1 in 456 1 in 1669	1 in 313792 1 in 532900 <1 in 1,000,000 1 in 133225 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 832656 <1 in 1,000,000	1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675	1 in 450 1 in 584 1 in 804 1 in 292 1 in 1068	1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACAT1	Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 1 in 1197 1 in 293 1 in 1378 1 in 173	1 in 769 1 in 1842 1 in 451 1 in 2120 1 in 266	<1 in 1,000,000 <1 in 1,000,000 1 in 528302 <1 in 1,000,000 1 in 184178	<1 in 1,000,000 <1 in 1,000,000 1 in 812772 <1 in 1,000,000 1 in 283351	1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065	1 in 2002 1 in 4788 1 in 1172 1 in 5512 1 in 692	1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACE	Renal tubular dysgenesis	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ACO2	Infantile cerebellar-retinal degeneration	Autosomal recessive	General population	<1 in 500	<1 in 889	<1 in 1,000,000	<1 in 1,000,000	<1 in 3556	<1 in 2000	<1 in 3556	1 in 4
ACOX1	Peroxisomal acyl-CoA oxidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,394 1 in 1071 N/A 1 in 3848 1 in 3358	1 in 7,180 1 in 3213 N/A 1 in 11544 1 in 10074	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296	1 in 9576 1 in 4284 N/A 1 in 15392 1 in 13432	1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACOX2	Bile acid synthesis defect, congenital, type 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ACP4	Amelogenesis imperfecta, type 1J	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ACP5	Spondyloenchondrodysplasia with immune dysregulation	Autosomal recessive	General population	<1 in 500	<1 in 1375	<1 in 1,000,000	<1 in 1,000,000	<1 in 5499	<1 in 2000	<1 in 5499	1 in 4
ACSF3	Combined malonic and methylmalonic aciduria	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 67 1 in 126 1 in 274 1 in 616 1 in 193	1 in 90 1 in 170 1 in 369 1 in 830 1 in 260	1 in 24108 1 in 85592 1 in 404758 <1 in 1,000,000 1 in 200821	1 in 32369 1 in 115364 1 in 545543 <1 in 1,000,000 1 in 270671	1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041	1 in 268 1 in 504 1 in 1096 1 in 2464 1 in 772	1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ACSL4	Mental retardation, X-linked, type 63	X-linked	General population	1 in 45000	1 in 179997	1 in 719988	-	-	1 in 4	-	-
ACTA1	Nemaline myopathy 3; Congenital fiber-type disproportion myopathy 1	Autosomal recessive*	General population	1 in 112	1 in 142	1 in 63784	1 in 80641	1 in 568	1 in 449	1 in 568	1 in 4
ACY1	Aminoacylase 1 deficiency	Autosomal recessive	General population	<1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
ADA	Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 390 1 in 91 1 in 1275 1 in 282 1 in 250	1 in 2,335 1 in 546 1 in 7650 1 in 1692 1 in 1500	<1 in 1,000,000 1 in 198744 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000	1 in 1560 1 in 364 1 in 5100 1 in 1128 1 in 1000	1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADA2	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ADAM9	Cone-rod dystrophy 9	Autosomal recessive	General population	1 in 80	1 in 109	1 in 34806	1 in 47694	1 in 437	1 in 319	1 in 437	1 in 4
ADAMTS10	Weill-Marchesani syndrome, type 1, recessive	Autosomal recessive	General population	1 in 80	1 in 185	1 in 58842	1 in 136313	1 in 738	1 in 319	1 in 738	1 in 4
ADAMTS13	Thrombotic thrombocytopenic purpura, familial (Schulman-Upshaw syndrome)	Autosomal recessive	General population	1 in 334	1 in 588	1 in 785913	<1 in 1,000,000	1 in 2354	1 in 1336	1 in 2354	1 in 4
ADAMTS17	Weill-Marchesani syndrome, type 4, recessive	Autosomal recessive	General population	1 in 80	1 in 7870	<1 in 1,000,000	<1 in 1,000,000	1 in 31479	1 in 319	1 in 31479	1 in 4
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus	Autosomal recessive	General population	1 in 112	1 in 168	1 in 75451	1 in 112840	1 in 672	1 in 449	1 in 672	1 in 4
ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 2,432 1 in 2434 1 in 631 1 in 3796 1 in 4193 1 in 217	1 in 4,053 1 in 4057 1 in 1052 1 in 6327 1 in 6988 1 in 7107	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430	1 in 9728 1 in 9736 1 in 2524 1 in 15184 1 in 16772 1 in 853	1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADAMTSL2	Geleophysic dysplasia type 1	Autosomal recessive	General population	<1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
ADAMTSL4	Ectopia lentis et pupillae; Ectopia lentis, isolated, type 2	Autosomal recessive	General population	<1 in 500	<1 in 2748	<1 in 1,000,000	<1 in 1,000,000	<1 in 10993	<1 in 2000	<1 in 10993	1 in 4
ADAR	Aicardi-Goutieres syndrome, type 6	Autosomal recessive	General population	<1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
ADAT3	Mental retardation, autosomal recessive 36	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ADD3	Cerebral palsy, spastic quadriplegic, 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ADGRG1	Polymicrogyria, bilateral frontoparietal	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,033 1 in 917 1 in 1433 1 in 641 1 in 1525	1 in 3,557 1 in 1605 1 in 2508 1 in 1122 1 in 2669	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675	1 in 8132 1 in 3668 1 in 5732 1 in 2564 1 in 6100	1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADGRG2	Vas deferens, congenital bilateral aplasia of, X-linked	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
ADGRG6	Lethal congenital contracture syndrome 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ADGRV1	Usher syndrome, type 2C	Autosomal recessive, digenic inheritance (PDZD7 gene)	General African/African American East Asian South Asian Latino	1 in 80 1 in 72 1 in 134 1 in 30 1 in 64	1 in 147 1 in 134 1 in 249 1 in 56 1 in 119	1 in 46798 1 in 38510 1 in 133387 1 in 6686 1 in 30427	1 in 86407 1 in 71518 1 in 247720 1 in 12416 1 in 56508	1 in 588 1 in 535 1 in 995 1 in 223 1 in 475	1 in 318 1 in 288 1 in 536 1 in 120 1 in 256	1 in 588 1 in 535 1 in 995 1 in 223 1 in 475	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADK	Hypermethioninemia due to adenosine kinase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,498 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5992 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 5992 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ADSL	Adenylosuccinase deficiency	Autosomal recessive	General population	<1 in 500	<1 in 1033	<1 in 1,000,000	<1 in 1,000,000	<1 in 4133	<1 in 2000	<1 in 4133	1 in 4
ADSS1	Myopathy, distal, 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
AFF2	Mental retardation, X-linked, FRAXE type	X-linked	General population	1 in 62501	1 in 125001	1 in 500004	-	-	1 in 4	-	-
AFG3L2	Spastic ataxia, type 5, autosomal recessive	Autosomal recessive	General population	<1 in 500	<1 in 760	<1 in 1,000,000	<1 in 1,000,000	<1 in 3041	<1 in 2000	<1 in 3041	1 in 4
AFP	Alpha-fetoprotein deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
AGA	Aspartylglucosaminuria (glycosylasparaginase deficiency)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 975 1 in 1650 1 in 1724 1 in 2198 1 in 1526	1 in 3,442 1 in 5830 1 in 6091 1 in 7766 1 in 5392	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567	1 in 3900 1 in 6600 1 in 6896 1 in 8792 1 in 6104	1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AGBL5	Retinitis pigmentosa 75	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
AGK	Cataract 38, autosomal recessive; Sengers syndrome	Autosomal recessive	General population	<1 in 500	<1 in 1437	<1 in 1,000,000	<1 in 1,000,000	<1 in 5748	<1 in 2000	<1 in 5748	1 in 4
AGL	Glycogen storage disease, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 259 1 in 191 1 in 549 1 in 510 1 in 470 <1 in 500 1 in 34	1 in 1,083 1 in 801 1 in 2302 1 in 2139 1 in 1971 1 in 167167 1 in 1133	<1 in 1,000,000 1 in 611939 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 154133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533	1 in 1036 1 in 764 1 in 2196 1 in 2040 1 in 1880 1 in 20060 1 in 136	1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AGPAT2	Congenital generalized lipodystrophy (Berardinelli-Seip syndrome)	Autosomal recessive	Caucasian/European population	1 in 2032	1 in 8802	<1 in 1,000,000	<1 in 1,000,000	1 in 35208	1 in 8128	1 in 35208	1 in 4
AGPS	Rhizomelic chondrodysplasia punctata, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 18,591 1 in 151 1 in 165 1 in 592 1 in 260	<1 in 1,000,000 1 in 15100 1 in 16500 1 in 59200 1 in 26000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000	1 in 74364 1 in 604 1 in 660 1 in 2368 1 in 1040	1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AGRN	Myasthenic syndrome, congenital, type 8	Autosomal recessive	General population	<1 in 500	<1 in 929	<1 in 1,000,000	<1 in 1,000,000	<1 in 3715	<1 in 2000	<1 in 3715	1 in 4
AGT	Renal tubular dysgenesis	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AGTR1	Renal tubular dysgenesis	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AGXT	Hyperoxaluria, primary, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 174 1 in 326 1 in 134 1 in 247 1 in 416	>1 in 5,758 1 in 10867 1 in 4467 1 in 8233 1 in 13867	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467	1 in 695 1 in 1304 1 in 536 1 in 988 1 in 1664	1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 708 N/A N/A N/A N/A	1 in 2,122 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 8488 N/A N/A N/A N/A	1 in 2832 N/A N/A N/A N/A	1 in 8488 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AHI1	Joubert syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 334 1 in 151 1 in 255 1 in 636 1 in 172	1 in 706 1 in 320 1 in 540 1 in 1347 1 in 364	1 in 943452 1 in 193138 1 in 550800 <1 in 1,000,000 1 in 250594	<1 in 1,000,000 1 in 408998 <1 in 1,000,000 <1 in 1,000,000 1 in 530669	1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457	1 in 1336 1 in 604 1 in 1020 1 in 2544 1 in 688	1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AICDA	Immunodeficiency with hyper-IgM, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
AIFM1	Cowchock syndrome; Deafness, X-linked, type 5	X-linked	General population	<1 in 500,000	<1 in 695652	<1 in 1,000,000	-	-	1 in 4	-	-
AIMP1	Leukodystrophy, hypomyelinating, type 3	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AIMP2	Leukodystrophy, hypomyelinating, 17	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
AIPL1	Leber congenital amaurosis, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 160 1 in 101 1 in 1149 1 in 31 1 in 524	1 in 189 1 in 119 1 in 1358 1 in 37 1 in 619	1 in 120902 1 in 48223 <1 in 1,000,000 1 in 4543 <1 in 1,000,000	1 in 142747 1 in 56991 <1 in 1,000,000 1 in 5369 <1 in 1,000,000	1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477	1 in 640 1 in 404 1 in 4596 1 in 124 1 in 2096	1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AIRE	Autoimmune polyendocrinopathy syndrome, type 1	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 209 1 in 437 1 in 313 1 in 979 1 in 422 1 in 500 1 in 27	1 in 1,665 1 in 3496 1 in 2504 1 in 7832 1 in 3376 1 in 1667 1 in 2700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 291600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800	1 in 836 1 in 1748 1 in 1252 1 in 3916 1 in 1688 1 in 2000 1 in 108	1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AK1	Hemolytic anemia due to adenylate kinase deficiency	Autosomal recessive	General population	<1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
AK2	Reticular dysgenesis	Autosomal recessive	Caucasian/European population	1 in 232	1 in 648	1 in 601158	<1 in 1,000,000	1 in 2591	1 in 928	1 in 2591	1 in 4
AKR1C2	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	Autosomal recessive	General population	<1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
AKR1D1	Bile acid synthesis defect, congenital, type 2	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ALAD	Porphyria, acute hepatic	Autosomal recessive	General population	<1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
ALAS2	X-linked sideroblastic anemia, type 1 (XLSA or SIDBA1)	X-linked	General population	<1 in 500,000	<1 in 1928571	<1 in 1,000,000	-	-	1 in 4	-	-
ALB	Analbuminemia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ALDH18A1	Spastic paraplegia, type 9B, autosomal recessive; De Barsy syndrome	Autosomal recessive	General population	<1 in 500	<1 in 1038	<1 in 1,000,000	<1 in 1,000,000	<1 in 4154	<1 in 2000	<1 in 4154	1 in 4
ALDH1A3	Microphthalmia, isolated 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ALDH3A2	Sjogren-Larsson syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 718 1 in 825 1 in 816 1 in 1152 1 in 672	1 in 4,231 1 in 4868 1 in 4814 1 in 6797 1 in 3965	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859	1 in 2872 1 in 3300 1 in 3264 1 in 4608 1 in 2688	1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALDH4A1	Hyperprolinemia, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 49,951 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ALDH6A1	Methylmalonate semialdehyde dehydrogenase deficiency	Autosomal recessive	General population	<1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
ALDH7A1	Epilepsy, pyridoxine-dependent	Autosomal recessive	Caucasian/European population	1 in 88	1 in 184	1 in 64662	1 in 134983	1 in 735	1 in 352	1 in 735	1 in 4
ALDOA	Glycogen storage disease type 12	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ALDOB	Fructose intolerance, hereditary	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 67 1 in 250 1 in 705 1 in 394 1 in 235	1 in 298 1 in 1127 1 in 3177 1 in 1776 1 in 1059	1 in 79989 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 995606	1 in 356325 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237	1 in 268 1 in 1000 1 in 2820 1 in 1576 1 in 940	1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALG1	Congenital disorder of glycosylation, type 1K	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 87 1 in 65 1 in 121 1 in 57 1 in 90	1 in 130 1 in 98 1 in 182 1 in 86 1 in 135	1 in 45240 1 in 25350 1 in 87846 1 in 19494 1 in 48600	1 in 67600 1 in 38025 1 in 131769 1 in 29241 1 in 72900	1 in 520 1 in 390 1 in 726 1 in 342 1 in 540	1 in 348 1 in 260 1 in 484 1 in 228 1 in 360	1 in 520 1 in 390 1 in 726 1 in 342 1 in 540	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALG11	Congenital disorder of glycosylation, type 1P	Autosomal recessive	General population	<1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
ALG12	Congenital disorder of glycosylation, type 1G	Autosomal recessive	General population	<1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
ALG13	Developmental and epileptic encephalopathy, type 36	X-linked	General population	<1 in 500,000	<1 in 625000	<1 in 1,000,000	-	-	1 in 4	-	-
ALG2	Myasthenic syndrome, congenital, type 14, with tubular aggregates	Autosomal recessive	General population	<1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
ALG3	Congenital disorder of glycosylation, type 1D	Autosomal recessive	General population	<1 in 500	Reduced	Reduced	Reduced	Reduced	<1 in 2000	Reduced	1 in 4
ALG6	Congenital disorder of glycosylation, type 1C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 301 1 in 432 1 in 529 1 in 809 1 in 1405	1 in 421 1 in 605 1 in 741 1 in 1133 1 in 1967	1 in 506884 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 708964 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868	1 in 1204 1 in 1728 1 in 2116 1 in 3236 1 in 5620	1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALG8	Congenital disorder of glycosylation, type 1H	Autosomal recessive	General population	<1 in 500	<1 in 778	<1 in 1,000,000	<1 in 1,000,000	<1 in 3112	<1 in 2000	<1 in 3112	1 in 4
ALG9	Congenital disorder of glycosylation, type 1L; Gillessen-Kaesbach-Nishimura syndrome	Autosomal recessive	General population	<1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
ALMS1	Alström syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 168 1 in 202 1 in 107 1 in 256 1 in 352	1 in 488 1 in 589 1 in 312 1 in 747 1 in 1027	1 in 327992 1 in 476047 1 in 133572 1 in 764587 <1 in 1,000,000	1 in 952901 <1 in 1,000,000 1 in 389584 <1 in 1,000,000 <1 in 1,000,000	1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107	1 in 672 1 in 808 1 in 428 1 in 1024 1 in 1408	1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALOX12B	Ichthyosis, congenital, autosomal recessive, type 2	Autosomal recessive	Caucasian/European population	1 in 475	1 in 859	<1 in 1,000,000	<1 in 1,000,000	1 in 3435	1 in 1900	1 in 3435	1 in 4
ALOXE3	Ichthyosis, congenital, autosomal recessive, type 3	Autosomal recessive	Caucasian/European population	1 in 184	1 in 387	1 in 285077	1 in 600108	1 in 1549	1 in 736	1 in 1549	1 in 4
ALPK3	Cardiomyopathy, familial hypertrophic 27	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ALPL	Hypophosphatasia, infantile/childhood	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 274 1 in 588 1 in 131 1 in 810 1 in 447	1 in 1,348 1 in 2901 1 in 646 1 in 3996 1 in 2205	<1 in 1,000,000 <1 in 1,000,000 1 in 338644 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821	1 in 1096 1 in 2352 1 in 524 1 in 3240 1 in 1788	1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ALS2	Amyotrophic lateral sclerosis, type 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending	Autosomal recessive	General population	<1 in 500	<1 in 1538	<1 in 1,000,000	<1 in 1,000,000	<1 in 6152	<1 in 2000	<1 in 6152	1 in 4
ALX1	Frontonasal dysplasia, type 3	Autosomal recessive	General population	<1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
ALX3	Frontonasal dysplasia, type 1	Autosomal recessive	General population	<1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
ALX4	Frontonasal dysplasia, type 2	Autosomal recessive	General population	<1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
AMACR	Bile acid synthesis defect, congenital, type 4; Alpha-methylacyl-CoA racemase deficiency	Autosomal recessive	General population	<1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
AMBN	Amelogenesis imperfecta, type IF	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
AMELX	Amelogenesis imperfecta, type 1E (hypomaturation type)	X-linked	General population	≤1 in 500	<1 in 916667	<1 in 1,000,000	-	-	1 in 4	-	-
AMER1	Osteopathia striata with cranial sclerosis	X-linked	General population	<1 in 500,000	<1 in 785715	<1 in 1,000,000	-	-	1 in 4	-	-
AMH	Persistent Mullerian duct syndrome, type 1	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AMHR2	Persistent Mullerian duct syndrome, type II	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AMMECR1	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
AMN	Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome)	Autosomal recessive	General population	≤1 in 500	<1 in 906	<1 in 1,000,000	<1 in 1,000,000	<1 in 3625	<1 in 2000	<1 in 3625	1 in 4
AMPD1	Myopathy due to myoadenylate deaminase deficiency	Autosomal recessive	Caucasian/European population	1 in 67	1 in 6568	<1 in 1,000,000	<1 in 1,000,000	1 in 26271	1 in 267	1 in 26271	1 in 4
AMPD2	Pontocerebellar hypoplasia, type 9	Autosomal recessive	Caucasian/European population	1 in 488	Reduced	Reduced	Reduced	Reduced	1 in 1952	Reduced	1 in 4
AMT	Glycine encephalopathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 779 1 in 801 1 in 1437 1 in 905 1 in 390	1 in 3,891 1 in 4005 1 in 7185 1 in 4525 1 in 1950	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800	1 in 3116 1 in 3204 1 in 5748 1 in 3620 1 in 1560	1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ANGPTL3	Hypobetalipoproteinemia, familial, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
ANKS6	Nephronophthisis 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ANO10	Spinocerebellar ataxia, autosomal recessive, type 10	Autosomal recessive	General population	<1 in 500	<1 in 1285	<1 in 1,000,000	<1 in 1,000,000	<1 in 5142	<1 in 2000	<1 in 5142	1 in 4
ANO5	Limb-girdle muscular dystrophy, type 12 (LGMD R12)	Autosomal recessive	General population	<1 in 500	<1 in 1234	<1 in 1,000,000	<1 in 1,000,000	<1 in 4937	<1 in 2000	<1 in 4937	1 in 4
ANO6	Scott syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ANOS1	Hypogonadotropic hypogonadism, type 1, with or without anosmia (Kallmann syndrome 1)	X-linked	General population	1 in 10001	1 in 16501	1 in 66003	-	-	1 in 4	-	-
ANTXR1	GAPO syndrome	Autosomal recessive	General population	<1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
ANTXR2	Hyaline fibromatosis syndrome	Autosomal recessive	Caucasian/European population	1 in 315	1 in 594	1 in 748580	<1 in 1,000,000	1 in 2376	1 in 1260	1 in 2376	1 in 4
AP1S1	MEDNIK syndrome	Autosomal recessive	General population	<1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
AP1S2	Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
AP3B1	Hermansky-Pudlak syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 3747	1 in 12488	<1 in 1,000,000	<1 in 1,000,000	1 in 49951	1 in 14988	1 in 49951	1 in 4
AP3B2	Epileptic encephalopathy, early infantile, type 48	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AP3D1	?Hermansky-Pudlak syndrome 10	Autosomal recessive	Caucasian/European population	1 in 2302	Reduced	Reduced	Reduced	Reduced	1 in 9208	Reduced	1 in 4
AP4B1	Spastic paraplegia, type 47, autosomal recessive	Autosomal recessive	General population	<1 in 500	<1 in 1143	<1 in 1,000,000	<1 in 1,000,000	<1 in 4571	<1 in 2000	<1 in 4571	1 in 4
AP4E1	Spastic paraplegia 51, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
AP4M1	Spastic paraplegia, type 50, autosomal recessive	Autosomal recessive	General population	<1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
AP4S1	Spastic paraplegia, type 52, autosomal recessive	Autosomal recessive	General population	<1 in 500	<1 in 1666	<1 in 1,000,000	<1 in 1,000,000	<1 in 6664	<1 in 2000	<1 in 6664	1 in 4
AP5Z1	Spastic paraplegia, type 48, autosomal recessive	Autosomal recessive	General population	<1 in 500	<1 in 654	<1 in 1,000,000	<1 in 1,000,000	<1 in 2617	<1 in 2000	<1 in 2617	1 in 4
APOC2	Hyperlipoproteinemia, type 1B	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
APOE	Sea-blue histiocyte disease	Autosomal recessive	General population	<1 in 500	<1 in 731	<1 in 1,000,000	<1 in 1,000,000	<1 in 2924	<1 in 2000	<1 in 2924	1 in 4
APRT	Adenine phosphoribosyltransferase deficiency	Autosomal recessive	Caucasian/European population	1 in 125	1 in 414	1 in 207167	1 in 686688	1 in 1657	1 in 500	1 in 1657	1 in 4
APTX	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Autosomal recessive	Europe (Portugal) population	1 in 247	1 in 2219	<1 in 1,000,000	<1 in 1,000,000	1 in 8876	1 in 990	1 in 8876	1 in 4
AQP2	Diabetes insipidus, nephrogenic, type 2	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino	1 in 721 1 in 864 1 in 676 1 in 3078 1 in 458	1 in 1,773 1 in 2127 1 in 1664 1 in 7577 1 in 1127	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510	1 in 2884 1 in 3456 1 in 2704 1 in 12312 1 in 1832	1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AR	Androgen insensitivity syndrome, complete	X-linked	General African/African American East Asian South Asian Latino	1 in 16,639 N/A N/A N/A N/A	1 in 37,670 N/A N/A N/A N/A	1 in 150679 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ARFGEF2	Periventricular heterotopia with microcephaly	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ARG1	Argininemia (arginase deficiency)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,559 1 in 497 1 in 4596 1 in 7655 1 in 775	1 in 6,745 1 in 1310 1 in 12117 1 in 20181 1 in 2043	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173	1 in 10236 1 in 1988 1 in 18384 1 in 30620 1 in 3100	1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARHGDIA	Nephrotic syndrome, type 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ARHGEF18	Retinitis pigmentosa 78	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ARHGEF9	Developmental and epileptic encephalopathy, type 8	X-linked	General population	<1 in 500,000	<1 in 678572	<1 in 1,000,000	-	-	1 in 4	-	-
ARL13B	Joubert syndrome type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 72 1 in 45 1 in 65 1 in 52 1 in 41	1 in 119 1 in 75 1 in 108 1 in 87 1 in 68	1 in 34368 1 in 13500 1 in 28167 1 in 18027 1 in 11207	1 in 56962 1 in 22500 1 in 46944 1 in 30044 1 in 18678	1 in 477 1 in 300 1 in 433 1 in 347 1 in 273	1 in 288 1 in 180 1 in 260 1 in 208 1 in 164	1 in 477 1 in 300 1 in 433 1 in 347 1 in 273	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARL2BP	Retinitis pigmentosa with or without situs inversus	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ARL6	Bardet-Biedl syndrome, type 3	Autosomal recessive	Caucasian/European population	1 in 2946	1 in 13744	<1 in 1,000,000	<1 in 1,000,000	1 in 54977	1 in 11784	1 in 54977	1 in 4
ARMC9	Joubert syndrome 30	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ARPC1B	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ARSA	Metachromatic leukodystrophy	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 135 1 in 239 1 in 364 1 in 371 1 in 503 1 in 815 1 in 46	1 in 2,686 1 in 4780 1 in 7280 1 in 7420 1 in 10060 1 in 4060 1 in 1533	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 282133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133	1 in 541 1 in 956 1 in 1456 1 in 1484 1 in 2012 1 in 3248 1 in 184	1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARSB	Mucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 314 1 in 664 1 in 1437 1 in 2198 1 in 4195	1 in 1,023 1 in 2169 1 in 4694 1 in 7180 1 in 13704	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815	1 in 1256 1 in 2656 1 in 5748 1 in 8792 1 in 16780	1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ARSL	Chondrodysplasia punctata, brachytelephalangic	X-linked	General African/African American East Asian South Asian Latino	1 in 250,000 N/A N/A N/A N/A	1 in 477,528 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ARV1	Epileptic encephalopathy, early infantile, 38	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ARX	Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders	X-linked	General African/African American East Asian South Asian Latino	1 in 37,038 N/A N/A N/A N/A	1 in 64,815 N/A N/A N/A N/A	1 in 259261 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ASAH1	Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy	Autosomal recessive	General population	1 in 500	1 in 598	<1 in 1,000,000	<1 in 1,000,000	1 in 2393	1 in 2002	1 in 2393	1 in 4
ASL	Argininosuccinic aciduria	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 117 1 in 375 1 in 444 1 in 527 1 in 437	1 in 372 1 in 1199 1 in 1420 1 in 1685 1 in 1397	1 in 174063 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 553328 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590	1 in 468 1 in 1500 1 in 1776 1 in 2108 1 in 1748	1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ASNS	Asparagine synthetase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 2,023 1 in 16915 1 in 570 1 in 765 1 in 795 <1 in 500 1 in 80	1 in 2,567 1 in 21469 1 in 723 1 in 971 1 in 1009 1 in 167833 1 in 2667	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 853333	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667	1 in 8092 1 in 67660 1 in 2280 1 in 3060 1 in 3180 1 in 20140 1 in 320	1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ASPA	Canavan disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 486 1 in 741 N/A 1 in 1923 1 in 899 1 in 46	1 in 1,458 1 in 2226 N/A 1 in 5778 1 in 2701 1 in 4768	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 909230	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071	1 in 1944 1 in 2964 N/A 1 in 7692 1 in 3596 1 in 191	1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ASPH	Traboulsi syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ASPM	Primary microcephaly type 5, autosomal recessive	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ASS1	Citrullinemia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 323 1 in 339 1 in 809 1 in 192 1 in 304	1 in 1,124 1 in 1182 1 in 2820 1 in 669 1 in 1060	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 514040 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239	1 in 1292 1 in 1356 1 in 3236 1 in 768 1 in 1216	1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATAD1	Hyperekplexia 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ATCAY	Ataxia, cerebellar, Cayman type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ATF6	Achromatopsia, type 7	Autosomal recessive	General population	1 in 80	1 in 127	1 in 40449	1 in 64414	1 in 508	1 in 319	1 in 508	1 in 4
ATIC	AICA-ribosiduria due to ATIC deficiency	Autosomal recessive	General population	<1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
ATM	Ataxia-telangiectasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 150 1 in 200 1 in 152 1 in 211 1 in 240 1 in 180	1 in 675 1 in 905 1 in 688 1 in 955 1 in 1086 1 in 18000	1 in 405051 1 in 723849 1 in 418095 1 in 805662 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000	1 in 600 1 in 800 1 in 608 1 in 844 1 in 960 1 in 720	1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATOH7	Persistent hyperplastic primary vitreous, autosomal recessive	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
ATP11C	?Hemolytic anemia, congenital, X-linked	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
ATP13A2	Kufor-Rakeb syndrome; Spastic paraplegia, type 78, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 221	1 in 514	1 in 454671	<1 in 1,000,000	1 in 2057	1 in 884	1 in 2057	1 in 4
ATP2A1	Brody myopathy	Autosomal recessive	General population	<1 in 500	<1 in 822	<1 in 1,000,000	<1 in 1,000,000	<1 in 3286	<1 in 2000	<1 in 3286	1 in 4
ATP2B3	?Spinocerebellar ataxia, X-linked 1 (SCAX1)	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
ATP5F1E	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ATP6AP1	Immunodeficiency 47	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
ATP6AP2	Mental retardation, X-linked, syndromic, Hedera type	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
ATP6V0A2	Cutis laxa, autosomal recessive, type 2A; Wrinkly skin syndrome	Autosomal recessive	Caucasian/European population	1 in 600	1 in 3395	<1 in 1,000,000	<1 in 1,000,000	1 in 13581	1 in 2400	1 in 13581	1 in 4
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 853	1 in 1279	<1 in 1,000,000	<1 in 1,000,000	1 in 5116	1 in 3412	1 in 5116	1 in 4
ATP6V1A	Cutis laxa, autosomal recessive, type 2D	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ATP6V1B1	Renal tubular acidosis with deafness	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,092 1 in 1219 1 in 851 1 in 1017 1 in 742 <1 in 500 1 in 140	1 in 2,401 1 in 2682 1 in 1872 1 in 2237 1 in 1632 1 in 167733 1 in 4667	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667	1 in 4368 1 in 4876 1 in 3404 1 in 4068 1 in 2968 1 in 20128 1 in 560	1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATP6V1E1	Cutis laxa, autosomal recessive, type 2C	Autosomal recessive	Caucasian/European population	1 in 28370	Reduced	Reduced	Reduced	Reduced	1 in 113480	Reduced	1 in 4
ATP7A	Menkes disease; Occipital horn syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 150,000 N/A 1 in 180000 N/A N/A	1 in 501,722 N/A 1 in 602069 N/A N/A	<1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ATP7B	Wilson disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 42 1 in 146 1 in 32 1 in 78 1 in 63 1 in 70	1 in 249 1 in 884 1 in 194 1 in 472 1 in 381 1 in 2333	1 in 41867 1 in 516172 1 in 24796 1 in 147326 1 in 96110 1 in 653333	1 in 248415 <1 in 1,000,000 1 in 150113 1 in 891881 1 in 581834 <1 in 1,000,000	1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333	1 in 168 1 in 584 1 in 128 1 in 312 1 in 252 1 in 280	1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATP8B1	Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 738 1 in 718 1 in 1127 1 in 1679 1 in 1567	1 in 1,803 1 in 1755 1 in 2755 1 in 4104 1 in 3830	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322	1 in 2952 1 in 2872 1 in 4508 1 in 6716 1 in 6268	1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ATR	Seckel syndrome, type 1	Autosomal recessive	General population	<1 in 500	<1 in 1300	<1 in 1,000,000	<1 in 1,000,000	<1 in 5199	<1 in 2000	<1 in 5199	1 in 4
ATRX	Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 919,360 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
AUH	3-methylglutaconic aciduria, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 938 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3750 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 3750 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
AURKC	Male infertility spermatogenic failure, type 5	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
AVIL	Nephrotic syndrome, type 21	Autosomal recessive	General population	1 in 2723	Reduced	Reduced	Reduced	Reduced	1 in 10892	Reduced	1 in 4
AVPR2	Diabetes insipidus, nephrogenic, type 1; Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)	X-linked	General population	1 in 10001	1 in 28236	1 in 112943	-	-	1 in 4	-	-
B2M	Immunodeficiency, type 43	Autosomal recessive	General population	<1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
B3GALNT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
B3GALT6	Ehlers-Danlos syndrome, spondylodysplastic type, 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
B3GAT3	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	Autosomal recessive	General population	<1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
B3GLCT	Peters-plus syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
B4GALNT1	Spastic paraplegia 26, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
B4GALT1	Congenital disorder of glycosylation, type 2D	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 50,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 199804 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
B4GALT7	Ehlers-Danlos syndrome, spondylodysplastic, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
B4GAT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
B9D1	Joubert syndrome, type 27	Autosomal recessive	Caucasian/European population	1 in 571	1 in 685	<1 in 1,000,000	<1 in 1,000,000	1 in 2740	1 in 2284	1 in 2740	1 in 4
B9D2	Joubert syndrome type 34; Meckel syndrome type 10	Autosomal recessive	Caucasian/European population	1 in 4005	1 in 5607	<1 in 1,000,000	<1 in 1,000,000	1 in 22426	1 in 16020	1 in 22426	1 in 4
BAAT	Hypercholanemia, familial	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BANF1	Nestor-Guillermo progeria syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BBS1	Bardet-Biedl syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 152 1 in 243 1 in 1725 1 in 185 1 in 417	1 in 490 1 in 787 1 in 5586 1 in 599 1 in 1350	1 in 297891 1 in 764825 <1 in 1,000,000 1 in 443295 <1 in 1,000,000	1 in 960213 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401	1 in 608 1 in 972 1 in 6900 1 in 740 1 in 1668	1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS10	Bardet-Biedl syndrome, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 237 1 in 470 1 in 428 1 in 425 1 in 1204	1 in 666 1 in 1325 1 in 1206 1 in 1198 1 in 3393	1 in 631454 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572	1 in 948 1 in 1880 1 in 1712 1 in 1700 1 in 4816	1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS12	Bardet-Biedl syndrome, type 12	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 613 1 in 843 1 in 4450 1 in 438 1 in 644	1 in 798 1 in 1098 1 in 5798 1 in 571 1 in 839	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 999914 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357	1 in 2452 1 in 3372 1 in 17800 1 in 1752 1 in 2576	1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS2	Bardet-Biedl syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 333 1 in 741 1 in 148 1 in 855 1 in 1126 1 in 140	1 in 3,255 1 in 7262 1 in 1450 1 in 8379 1 in 11035 1 in 14000	<1 in 1,000,000 <1 in 1,000,000 1 in 858637 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000	1 in 1332 1 in 2964 1 in 592 1 in 3420 1 in 4504 1 in 560	1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BBS4	Bardet-Biedl syndrome, type 4	Autosomal recessive	Caucasian/European population	1 in 418	1 in 725	<1 in 1,000,000	<1 in 1,000,000	1 in 2901	1 in 1672	1 in 2901	1 in 4
BBS5	Bardet-Biedl syndrome, type 5	Autosomal recessive	Caucasian/European population	1 in 66	1 in 73	1 in 19140	1 in 21025	1 in 290	1 in 264	1 in 290	1 in 4
BBS7	Bardet-Biedl syndrome, type 7	Autosomal recessive	Caucasian/European population	1 in 588	1 in 1091	<1 in 1,000,000	<1 in 1,000,000	1 in 4365	1 in 2352	1 in 4365	1 in 4
BBS9	Bardet-Biedl syndrome, type 9	Autosomal recessive	Caucasian/European population	1 in 680	1 in 1853	<1 in 1,000,000	<1 in 1,000,000	1 in 7411	1 in 2720	1 in 7411	1 in 4
BCAP31	Deafness, dystonia, and cerebral hypomyelination	X-linked	General population	≤1 in 500	<1 in 1333333	<1 in 1,000,000	-	-	1 in 4	-	-
BCAT2	?Hypervalinemia or hyperleucine-isoleucinemia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BCKDHA	Maple syrup urine disease, type 1A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 555 1 in 478 1 in 869 1 in 1068 1 in 837	1 in 2,317 1 in 1998 1 in 3632 1 in 4464 1 in 3499	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995	1 in 2220 1 in 1912 1 in 3476 1 in 4272 1 in 3348	1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BCKDHB	Maple syrup urine disease, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 306 1 in 608 1 in 666 1 in 1665 1 in 412 1 in 97	1 in 990 1 in 1971 1 in 2159 1 in 5398 1 in 1336 1 in 9736	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944	1 in 1224 1 in 2432 1 in 2664 1 in 6660 1 in 1648 1 in 389	1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BCL10	?Immunodeficiency 37	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BCOR	Microphthalmia, syndromic, type 2	X-linked	General population	≤1 in 500	<1 in 904762	<1 in 1,000,000	-	-	1 in 4	-	-
BCS1L	BCS1L-related disorders, including Leigh syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 385 1 in 457 1 in 822 1 in 616 1 in 552	1 in 1,230 1 in 1462 1 in 2630 1 in 1971 1 in 1766	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066	1 in 1540 1 in 1828 1 in 3288 1 in 2464 1 in 2208	1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BEST1	Bestrophinopathy, AR	Autosomal recessive	General population	≤1 in 500	<1 in 694	<1 in 1,000,000	<1 in 1,000,000	<1 in 2776	<1 in 2000	<1 in 2776	1 in 4
BFSP1	Cataract 33, multiple types	Autosomal recessive*	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BGN	Spondyloepimetaphyseal dysplasia, X-linked; Meester-Loeys syndrome	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
BHLHA9	Syndactyly, mesoaxial synostotic, with phalangeal reduction	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
BIN1	Centronuclear myopathy, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
BLM	Bloom syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 358 1 in 532 1 in 337 1 in 636 1 in 495 1 in 119	1 in 35,701 1 in 53200 1 in 33700 1 in 63600 1 in 49500 1 in 4012	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 643838	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048	1 in 1432 1 in 2128 1 in 1348 1 in 2544 1 in 1980 1 in 160	1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BLNK	?Agammaglobulinemia 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BLOC1S3	Hermansky-Pudlak syndrome 8	Autosomal recessive	Caucasian/European population	1 in 1818	Reduced	Reduced	Reduced	Reduced	1 in 7272	Reduced	1 in 4
BLOC1S6	?Hermansky-pudlak syndrome 9	Autosomal recessive	Caucasian/European population	1 in 365	Reduced	Reduced	Reduced	Reduced	1 in 1460	Reduced	1 in 4
BLVRA	Hyperbiliverdinemia	Autosomal recessive*	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
BMP1	Osteogenesis imperfecta, type 13	Autosomal recessive	Caucasian/European population	1 in 643	1 in 1927	<1 in 1,000,000	<1 in 1,000,000	1 in 7708	1 in 2572	1 in 7708	1 in 4
BMP15	Ovarian dysgenesis 2	X-linked	General population	≤1 in 500	<1 in 666667	<1 in 1,000,000	-	-	1 in 4	-	-
BMPER	Diaphanospondylodysostosis	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
BMPR1B	Acromesomelic dysplasia, Demirhan type	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
BOLA3	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
BPGM	Erythrocytosis due to bisphosphoglycerate mutase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
BPNT2	Chondrodysplasia with joint dislocations, GPAPP type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BRAT1	Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
BRF1	Cerebellofaciodental syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
BRIP1	Fanconi anemia, complementation group J	Autosomal recessive	Caucasian/European population	1 in 295	1 in 670	1 in 791043	<1 in 1,000,000	1 in 2682	1 in 1180	1 in 2682	1 in 4
BRWD3	Mental retardation, X-linked, type 93	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 65,000 N/A N/A N/A N/A	1 in 259998 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
BSCL2	Congenital generalized lipodystrophy, type 2; Encephalopathy, progressive, with or without lipodystrophy	Autosomal recessive	General population	≤1 in 500	<1 in 1131	<1 in 1,000,000	<1 in 1,000,000	<1 in 4526	<1 in 2000	<1 in 4526	1 in 4
BSND	Bartter syndrome, type 4A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 916 1 in 186 1 in 687 1 in 733 1 in 2856	1 in 2,014 1 in 409 1 in 1511 1 in 1613 1 in 6283	<1 in 1,000,000 1 in 304445 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 669779 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133	1 in 3664 1 in 744 1 in 2748 1 in 2932 1 in 11424	1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BTD	Biotinidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 120 1 in 52 1 in 324 1 in 7 1 in 136	1 in 477 1 in 208 1 in 1296 1 in 28 1 in 544	1 in 228960 1 in 43264 <1 in 1,000,000 1 in 784 1 in 295936	1 in 910116 1 in 173056 <1 in 1,000,000 1 in 3136 <1 in 1,000,000	1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176	1 in 480 1 in 208 1 in 1296 1 in 28 1 in 544	1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
BTK	Agammaglobulinemia X-linked, type 1	X-linked	General African/African American East Asian South Asian Latino	1 in 126,556 N/A N/A N/A N/A	1 in 275,310 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
BUB1B	Mosaic variegated aneuploidy syndrome 1	Autosomal recessive	General population	≤1 in 500	<1 in 885	<1 in 1,000,000	<1 in 1,000,000	<1 in 3539	<1 in 2000	<1 in 3539	1 in 4
C12orf57	Temtamy syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
C12orf65	Combined oxidative phosphorylation deficiency 7; Spastic paraplegia, type 55, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
C19orf12	Neurodegeneration with brain iron accumulation, type 4	Autosomal recessive*	Caucasian/European population	1 in 201	1 in 301	1 in 242004	1 in 362404	1 in 1204	1 in 804	1 in 1204	1 in 4
C1QA	C1q deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
C1QB	C1q deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
C1QBP	Combined oxidative phosphorylation deficiency 33	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
C1QC	C1q deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
C1S	C1s deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
C2	C2 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
C2CD3	Orofaciodigital syndrome, type 14	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
C3	Complement component 3 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 3997	<1 in 1,000,000	<1 in 1,000,000	<1 in 15988	<1 in 2000	<1 in 15988	1 in 4
C4A	C4a deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
C5	Complement component 5 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
C6	Complement component 6 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
C7	Complement component 7 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
C8A	C8 deficiency, type I	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
C8B	Complement component 8 deficiency, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
C8orf37	Bardet-Biedl syndrome, type 21; Cone-rod dystrophy 16 and Retintis pigmentosa 64	Autosomal recessive	General population	≤1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
CA12	Hyperchlorhidrosis, isolated	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
CA2	Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CA5A	Hyperammonemia due to carbonic anhydrase VA deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CA8	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CABP2	Deafness, autosomal recessive 93	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CABP4	Congenital stationary night blindness, type 2B	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
CACNA1D	Sinoatrial node dysfunction and deafness	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CACNA1F	Cone-rod dystrophy, X-linked, type 3; Night blindness, congenital stationary, type 2A; Aland Island eye disease	X-linked	General population	≤1 in 500	<1 in 820513	<1 in 1,000,000	-	-	1 in 4	-	-
CACNA2D4	Retinal cone dystrophy 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CAD	Epileptic encephalopathy, early infantile, 50	Autosomal recessive	Caucasian/European population	1 in 207	Reduced	Reduced	Reduced	Reduced	1 in 828	Reduced	1 in 4
CALCRL	?Lymphatic malformation 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CANT1	Desbuquois dysplasia, type 1; Epiphyseal dysplasia, multiple, type 7	Autosomal recessive	General Population	1 in 500	1 in 899	<1 in 1,000,000	<1 in 1,000,000	1 in 3597	1 in 2000	1 in 3597	1 in 4
CAPN1	Spastic paraplegia 76, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CAPN3	Limb-girdle muscular dystrophy, type 1 (LGMD R1)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 103 1 in 111 1 in 104 1 in 223 1 in 144	1 in 7,498 1 in 8158 1 in 7644 1 in 16391 1 in 10584	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336	1 in 412 1 in 444 1 in 416 1 in 892 1 in 576	1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CARD11	Immunodeficiency 11A	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CARD9	Candidiasis, familial, type 2, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
CARS2	Combined oxidative phosphorylation deficiency 27	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CASK	Mental retardation, X-linked, syndromic, Najm type	X-linked	General population	1 in 50000	1 in 98809	1 in 395234	-	-	1 in 4	-	-
CASP14	Ichthyosis, congenital, autosomal recessive 12	Autosomal recessive	Caucasian/European population	1 in 1323	Reduced	Reduced	Reduced	Reduced	1 in 5292	Reduced	1 in 4
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 51 N/A N/A N/A N/A	1 in 98 N/A N/A N/A N/A	1 in 19924 N/A N/A N/A N/A	1 in 38155 N/A N/A N/A N/A	1 in 391 N/A N/A N/A N/A	1 in 204 N/A N/A N/A N/A	1 in 391 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CASR	Hyperparathyroidism, neonatal	Autosomal recessive*	General population	≤1 in 500	<1 in 1042	<1 in 1,000,000	<1 in 1,000,000	<1 in 4167	<1 in 2000	<1 in 4167	1 in 4
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CAT	Acatalasemia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CATSPER1	Male infertility spermatogenic failure, type 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CAVIN1	Lipodystrophy, congenital generalized, type 4	Autosomal recessive	Caucasian/European population	1 in 6013	1 in 54109	<1 in 1,000,000	<1 in 1,000,000	1 in 216436	1 in 24052	1 in 216436	1 in 4
CBLIF	Intrinsic factor deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
CBS	Homocystinuria due to cystathionine beta-synthase	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 128 1 in 188 1 in 589 1 in 523 1 in 202	1 in 2,541 1 in 3760 1 in 11780 1 in 10460 1 in 4040	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160	1 in 512 1 in 752 1 in 2356 1 in 2092 1 in 808	1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CC2D1A	Mental retardation, autosomal recessive, type 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CC2D2A	Joubert syndrome type 9	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
CCBE1	Hennekam lymphangiectasia-lymphedema syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
CCDC103	Ciliary dyskinesia, primary, type 17	Autosomal recessive	General Population	1 in 316	1 in 631	1 in 797584	<1 in 1,000,000	1 in 2524	1 in 1264	1 in 2524	1 in 4
CCDC115	Congenital disorder of glycosylation, type IIo	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CCDC174	Hypotonia, infantile, with psychomotor retardation	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CCDC22	Ritscher-Schinzel syndrome 2	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
CCDC39	Ciliary dyskinesia, primary, type 14	Autosomal recessive	General Population	1 in 211	1 in 354	1 in 298354	1 in 499849	1 in 1414	1 in 844	1 in 1414	1 in 4
CCDC40	Ciliary dyskinesia, primary, type 15	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
CCDC65	Ciliary dyskinesia, primary, 27	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CCDC8	3M syndrome 3	Autosomal recessive	Caucasian/European population	1 in 777	Reduced	Reduced	Reduced	Reduced	1 in 3108	Reduced	1 in 4
CCDC88C	Hydrocephalus, congenital, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CCN6	Arthropathy, progressive pseudorheumatoid, of childhood	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 674 1 in 469 1 in 706 1 in 303 1 in 643	1 in 1,796 1 in 1251 1 in 1883 1 in 808 1 in 1715	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 979296 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859	1 in 2696 1 in 1876 1 in 2824 1 in 1212 1 in 2572	1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CCNO	Ciliary dyskinesia, primary, 29	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CCNQ	STAR syndrome	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CD19	Immunodeficiency, common variable, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
CD247	?Immunodeficiency 25	Autosomal recessive	Caucasian/European population	1 in 1295	Reduced	Reduced	Reduced	Reduced	1 in 5180	Reduced	1 in 4
CD27	Lymphoproliferative syndrome 2	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
CD2AP	Glomerulosclerosis, focal segmental, type 3, susceptibility to	Autosomal recessive*	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CD320	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CD36	Platelet glycoprotein 4 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CD3D	Immunodeficiency, type 19	Autosomal recessive	Caucasian/European population	1 in 944	1 in 2830	<1 in 1,000,000	<1 in 1,000,000	1 in 11320	1 in 3776	1 in 11320	1 in 4
CD3E	Immunodeficiency, type 18	Autosomal recessive	Caucasian/European population	1 in 4727	1 in 8272	<1 in 1,000,000	<1 in 1,000,000	1 in 33086	1 in 18908	1 in 33086	1 in 4
CD3G	Immunodeficiency, type 17, CD3 gamma deficient	Autosomal recessive	Caucasian/European population	1 in 3171	1 in 5284	<1 in 1,000,000	<1 in 1,000,000	1 in 21137	1 in 12684	1 in 21137	1 in 4
CD40	Immunodeficiency with hyper-IgM, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CD40LG	Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)	X-linked	General African/African American East Asian South Asian Latino	1 in 250,000 N/A N/A N/A N/A	1 in 532,258 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CD55	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE)	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
CD59	CD59 Deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CD79A	Agammaglobulinemia 3	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
CD79B	Agammaglobulinemia 6	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CD81	Immunodeficiency, common variable, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CD8A	CD8 deficiency, familial	Autosomal recessive	Caucasian/European population	1 in 3179	Reduced	Reduced	Reduced	Reduced	1 in 12716	Reduced	1 in 4
CDAN1	Dyserythropoietic anemia, congenital, type 1A	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CDC14A	Deafness, autosomal recessive 105	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CDC45	Meier-Gorlin syndrome 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CDCA7	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	Autosomal recessive	Caucasian/European population	1 in 3526	Reduced	Reduced	Reduced	Reduced	1 in 14104	Reduced	1 in 4
CDH11	Elsahy-Waters syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CDH23	Deafness, autosomal recessive, type 12; Usher syndrome, type 1D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 216 1 in 118 1 in 116 1 in 166 1 in 222	1 in 499 1 in 273 1 in 268 1 in 384 1 in 514	1 in 430825 1 in 128914 1 in 124581 1 in 255125 1 in 456292	1 in 994569 1 in 298386 1 in 288357 1 in 590515 <1 in 1,000,000	1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055	1 in 864 1 in 472 1 in 464 1 in 664 1 in 888	1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CDH3	Ectodermal dysplasia, ectrodactyly, and macular dystrophy	Autosomal recessive	Caucasian/European population	1 in 244	1 in 433	1 in 422608	1 in 749956	1 in 1732	1 in 976	1 in 1732	1 in 4
CDHR1	Cone-rod dystrophy, type 15	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
CDIN1	Dyserythropoietic anemia, congenital, type Ib	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CDK10	Al Kaissi syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CDK5RAP2	Primary microcephaly type 3, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 2199	<1 in 1,000,000	<1 in 1,000,000	<1 in 8795	<1 in 2000	<1 in 8795	1 in 4
CDKL5	Developmental and epileptic encephalopathy, type 2	X-linked	General population	≤1 in 500	<1 in 1057047	<1 in 1,000,000	-	-	1 in 4	-	-
CDSN	Peeling skin syndrome 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CDT1	Meier-Gorlin syndrome, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
CEBPE	Specific granule deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CENPF	Stromme syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CENPJ	Primary microcephaly type 6, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 4746	<1 in 1,000,000	<1 in 1,000,000	<1 in 18985	<1 in 2000	<1 in 18985	1 in 4
CEP104	Joubert syndrome 25	Autosomal recessive	Caucasian/European population	1 in 108	Reduced	Reduced	Reduced	Reduced	1 in 432	Reduced	1 in 4
CEP120	Short-rib thoracic dysplasia 13 with or without polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CEP135	Microcephaly 8, primary, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
CEP152	Primary microcephaly type 9, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1091	<1 in 1,000,000	<1 in 1,000,000	<1 in 4363	<1 in 2000	<1 in 4363	1 in 4
CEP164	Nephronophthisis 15	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CEP19	Morbid obesity and spermatogenic failure	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CEP290	Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 97 1 in 131 1 in 32 1 in 222 1 in 199	1 in 248 1 in 337 1 in 82 1 in 571 1 in 512	1 in 96169 1 in 176513 1 in 10533 1 in 506921 1 in 407325	1 in 245733 1 in 453891 1 in 27084 <1 in 1,000,000 <1 in 1,000,000	1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047	1 in 388 1 in 524 1 in 128 1 in 888 1 in 796	1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CEP41	Joubert syndrome, type 15	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
CEP55	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CEP57	Mosaic variegated aneuploidy syndrome 2	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
CEP78	Cone-rod dystrophy and hearing loss	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CEP83	Nephronophthisis 18	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CERKL	Retinitis pigmentosa, type 26	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 370 1 in 963 1 in 547 1 in 416 1 in 602 <1 in 500 1 in 24	1 in 515 1 in 1341 1 in 762 1 in 579 1 in 839 1 in 163600 1 in 800	1 in 762147 <1 in 1,000,000 <1 in 1,000,000 1 in 964169 <1 in 1,000,000 <1 in 1,000,000 1 in 76800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200	1 in 1480 1 in 3852 1 in 2188 1 in 1664 1 in 2408 1 in 19632 1 in 96	1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CERS3	Ichthyosis, congenital, autosomal recessive 9	Autosomal recessive	Caucasian/European population	1 in 6225	Reduced	Reduced	Reduced	Reduced	1 in 24900	Reduced	1 in 4
CFAP298	Ciliary dyskinesia, primary, 26	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CFAP410	Axial spondylometaphyseal dysplasia; Retinal dystrophy with macular staphyloma	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CFAP43	Spermatogenic failure 19	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CFAP53	Heterotaxy, visceral, 6, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CFD	Complement factor D deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CFH	Complement factor H deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
CFI	Complement factor I deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
CFL2	Nemaline myopathy, type 7, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
CFP	Properdin deficiency, X-linked	X-linked	General population	≤1 in 500	<1 in 750000	<1 in 1,000,000	-	-	1 in 4	-	-
CFTR	Cystic fibrosis	Autosomal recessive	Caucasian/European African/African American Asian Latino Ashkenazi Jewish	1 in 26 1 in 61 1 in 94 1 in 58 1 in 24	1 in 246 1 in 610 1 in 940 1 in 580 1 in 169	1 in 25112 1 in 148840 1 in 353440 1 in 134560 1 in 16255	1 in 242265 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 114684	1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677	1 in 102 1 in 244 1 in 376 1 in 232 1 in 96	1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHAT	Myasthenic syndrome, congenital, type 6, presynaptic	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 121 1 in 209 1 in 318 1 in 321 1 in 30	1 in 134 1 in 231 1 in 351 1 in 355 1 in 33	1 in 64678 1 in 193116 1 in 447075 1 in 455550 1 in 3979	1 in 71430 1 in 213444 1 in 494135 1 in 503502 1 in 4398	1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133	1 in 484 1 in 836 1 in 1272 1 in 1284 1 in 120	1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHKB	Muscular dystrophy, congenital, megaconial type	Autosomal recessive	General population	≤1 in 500	<1 in 1300	<1 in 1,000,000	<1 in 1,000,000	<1 in 5199	<1 in 2000	<1 in 5199	1 in 4
CHM	Choroideremia	X-linked	General African/African American East Asian South Asian Latino	1 in 33,334 1 in 25000 N/A N/A 1 in 25000	1 in 64,000 1 in 48000 N/A N/A 1 in 48000	1 in 256001 1 in 192000 N/A N/A 1 in 192000	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CHMP1A	Pontocerebellar hypoplasia, type 8	Autosomal recessive	Caucasian/European population	1 in 717	Reduced	Reduced	Reduced	Reduced	1 in 2868	Reduced	1 in 4
CHRDL1	Megalocornea 1, X-linked	X-linked	General population	≤1 in 500	<1 in 3999997	<1 in 1,000,000	-	-	1 in 4	-	-
CHRNA1	Multiple pterygium syndrome, lethal type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CHRNB1	?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CHRND	Myasthenic syndrome, congenital, type 3B, fast-channel; Multiple pterygium syndrome, lethal type	Autosomal recessive	General population	<1 in 500	<1 in 1187	<1 in 1,000,000	<1 in 1,000,000	<1 in 4749	<1 in 2000	<1 in 4749	1 in 4
CHRNE	Myasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 244 1 in 300 1 in 299 1 in 312 1 in 366	1 in 491 1 in 605 1 in 603 1 in 629 1 in 738	1 in 479465 1 in 726304 1 in 721470 1 in 785570 <1 in 1,000,000	1 in 965326 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954	1 in 976 1 in 1200 1 in 1196 1 in 1248 1 in 1464	1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHRNG	Multiple pterygium syndrome (MPS), Escobar type; MPS, lethal type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 400 1 in 546 1 in 529 1 in 384 1 in 371	1 in 1,597 1 in 2184 1 in 2116 1 in 1536 1 in 1484	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936	1 in 1600 1 in 2184 1 in 2116 1 in 1536 1 in 1484	1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHST14	Ehlers-Danlos syndrome, musculocontractural, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
CHST6	Macular corneal dystrophy	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 394 N/A N/A N/A N/A	1 in 125725 N/A N/A N/A N/A	1 in 622315 N/A N/A N/A N/A	1 in 1578 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 1578 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CHSY1	Temtamy preaxial brachydactyly syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
CHUK	Cocoon syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CIB2	Deafness, autosomal recessive, type 48; Usher syndrome, type 1J	Autosomal recessive	Caucasian/European population	1 in 1059	1 in 2470	<1 in 1,000,000	<1 in 1,000,000	1 in 9879	1 in 4236	1 in 9879	1 in 4
CIITA	Bare lymphocyte syndrome, type 2, complementation group A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 924 1 in 2879 1 in 1002 1 in 2185 1 in 1322	1 in 1,501 1 in 4678 1 in 1628 1 in 3551 1 in 2148	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593	1 in 3696 1 in 11516 1 in 4008 1 in 8740 1 in 5288	1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CILK1	Endocrine-cerebroosteodysplasia	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CISD2	Wolfram syndrome 2	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CIT	Microcephaly 17, primary, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CKAP2L	Filippi syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CLCF1	Cold-induced sweating syndrome 2	Autosomal recessive	Caucasian/European population	1 in 18716	1 in 37431	<1 in 1,000,000	<1 in 1,000,000	1 in 149724	1 in 74864	1 in 149724	1 in 4
CLCN1	Myotonia congenita, recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 202214 N/A N/A N/A N/A	1 in 406323 N/A N/A N/A N/A	1 in 1275 N/A N/A N/A N/A	1 in 634 N/A N/A N/A N/A	1 in 1275 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLCN2	Leukoencephalopathy with ataxia	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
CLCN4	Mental retardation, X-linked 49	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
CLCN5	Dent disease; Hypophosphatemic rickets	X-linked	General population	≤1 in 500	<1 in 1000000	<1 in 1,000,000	-	-	1 in 4	-	-
CLCN7	Osteopetrosis, autosomal recessive type 4	Autosomal recessive	General population	≤1 in 500	<1 in 532	<1 in 1,000,000	<1 in 1,000,000	<1 in 2127	<1 in 2000	<1 in 2127	1 in 4
CLCNKA	Bartter syndrome, type 4B, digenic	Digenic inheritance (CLCNKB gene)	Caucasian/European population	1 in 170	1 in 508	1 in 345440	<1 in 1,000,000	1 in 2032	1 in 680	1 in 2032	1 in 4
CLCNKB	Bartter syndrome, type 3; Bartter syndrome, type 4B, digenic	Autosomal recessive; Digenic inheritance (CLCNKA gene)	Caucasian/European population	1 in 260	1 in 482	1 in 501280	1 in 929296	1 in 1928	1 in 1040	1 in 1928	1 in 4
CLDN1	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
CLDN10	HELIX syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CLDN14	Deafness type 29, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CLDN16	Hypomagnesemia, type 3, renal	Autosomal recessive	General population	≤1 in 500	<1 in 647	<1 in 1,000,000	<1 in 1,000,000	<1 in 2590	<1 in 2000	<1 in 2590	1 in 4
CLDN19	Rena hypomagnesemia type 5, with ocular involvement	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
CLEC7A	Candidiasis, familial, 4, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CLMP	Congenital short bowel syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
CLN3	Ceroid lipofuscinosis, neuronal, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 242 1 in 1697 1 in 589 1 in 2552 1 in 1538	1 in 2,090 1 in 14707 1 in 5105 1 in 22117 1 in 13329	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317	1 in 968 1 in 6788 1 in 2356 1 in 10208 1 in 6152	1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLN5	Ceroid lipofuscinosis, neuronal, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 762 1 in 1473 1 in 748 1 in 4827 1 in 794	1 in 3,299 1 in 6383 1 in 3241 1 in 20917 1 in 3441	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763	1 in 3048 1 in 5892 1 in 2992 1 in 19308 1 in 3176	1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLN6	Ceroid lipofuscinosis, neuronal, type 6	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 977 1 in 1528 1 in 909 1 in 733 1 in 698	1 in 2,840 1 in 4445 1 in 2644 1 in 2132 1 in 2031	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122	1 in 3908 1 in 6112 1 in 3636 1 in 2932 1 in 2792	1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLN8	Ceroid lipofuscinosis, neuronal, type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,250 1 in 1107 1 in 1725 1 in 1924 1 in 3358	1 in 2,276 1 in 2016 1 in 3142 1 in 3504 1 in 6116	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465	1 in 5000 1 in 4428 1 in 6900 1 in 7696 1 in 13432	1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CLP1	Pontocerebellar hypoplasia, type 10	Autosomal recessive	Caucasian/European population	1 in 2855	Reduced	Reduced	Reduced	Reduced	1 in 11420	Reduced	1 in 4
CLPB	3-methylglutaconic aciduria, type 7, with cataracts, neurologic involvement and neutropenia	autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CLPP	Perrault syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CLRN1	Usher syndrome, type 3A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 420 1 in 632 1 in 1263 N/A 1 in 1889 1 in 132	1 in 577 1 in 869 1 in 1737 N/A 1 in 2597 1 in 3771	1 in 969570 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084	1 in 1680 1 in 2528 1 in 5052 N/A 1 in 7556 1 in 453	1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CNGA1	Retinitis pigmentosa type 49	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 625 N/A N/A N/A N/A	1 in 1,171 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4684 N/A N/A N/A N/A	1 in 2500 N/A N/A N/A N/A	1 in 4684 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CNGA3	Achromatopsia, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 790	<1 in 1,000,000	<1 in 1,000,000	<1 in 3159	<1 in 2000	<1 in 3159	1 in 4
CNGB1	Retinitis pigmentosa type 45	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 867 N/A N/A N/A N/A	1 in 1,614 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6454 N/A N/A N/A N/A	1 in 3468 N/A N/A N/A N/A	1 in 6454 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CNGB3	Achromatopsia, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 87 1 in 50 1 in 208 1 in 18 1 in 90	1 in 1,363 1 in 792 1 in 3293 1 in 285 1 in 1425	1 in 474208 1 in 158333 <1 in 1,000,000 1 in 20520 1 in 513000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 324900 <1 in 1,000,000	1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700	1 in 348 1 in 200 1 in 832 1 in 72 1 in 360	1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CNKSR2	Mental retardation, X-linked, syndromic, Houge type	X-linked	General population	≤1 in 500	<1 in 1200000	<1 in 1,000,000	-	-	1 in 4	-	-
CNNM2	Hypomagnesemia, seizures, and mental retardation	Autosomal recessive*	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CNNM4	Jalili syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1143	<1 in 1,000,000	<1 in 1,000,000	<1 in 4571	<1 in 2000	<1 in 4571	1 in 4
CNPY3	Epileptic encephalopathy, early infantile, type 60	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
CNTNAP1	Lethal congenital contracture syndrome 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CNTNAP2	Pitt-Hopkins like syndrome 1	Autosomal recessive	Caucasian/European population	1 in 314	1 in 542	1 in 680295	<1 in 1,000,000	1 in 2167	1 in 1256	1 in 2167	1 in 4
COA6	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COA8	Mitochondrial complex IV deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COASY	Neurodegeneration with brain iron accumulation 6	Autosomal recessive	Caucasian/European population	1 in 383	Reduced	Reduced	Reduced	Reduced	1 in 1532	Reduced	1 in 4
COG1	Congenital disorder of glycosylation, type IIg	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COG4	Congenital disorder of glycosylation, type 2J	Autosomal recessive	General population	<1 in 500	<1 in 682	<1 in 1,000,000	<1 in 1,000,000	<1 in 2729	<1 in 2000	<1 in 2729	1 in 4
COG5	Congenital disorder of glycosylation, type 2I	Autosomal recessive	General population	<1 in 500	<1 in 563	<1 in 1,000,000	<1 in 1,000,000	<1 in 2252	<1 in 2000	<1 in 2252	1 in 4
COG6	Congenital disorder of glycosylation, type 2L; Shaheen syndrome	Autosomal recessive	General population	<1 in 500	<1 in 637	<1 in 1,000,000	<1 in 1,000,000	<1 in 2547	<1 in 2000	<1 in 2547	1 in 4
COG7	Congenital disorder of glycosylation, type 2E	Autosomal recessive	General population	<1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
COG8	Congenital disorder of glycosylation, type 2H	Autosomal recessive	General population	<1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
COL11A1	Fibrochondrogenesis type 1	Autosomal recessive	General population	≤1 in 500	<1 in 525	<1 in 1,000,000	<1 in 1,000,000	<1 in 2102	<1 in 2000	<1 in 2102	1 in 4
COL11A2	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COL13A1	Myasthenic syndrome, congenital, 19	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COL17A1	Epidermolysis bullosa, junctional, non-Herlitz type	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
COL18A1	Knobloch syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 850	<1 in 1,000,000	<1 in 1,000,000	<1 in 3401	<1 in 2000	<1 in 3401	1 in 4
COL1A2	Ehlers-Danlos syndrome, cardiac valvular type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COL25A1	Fibrosis of extraocular muscles, congenital, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
COL27A1	Steel syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A 1 in 40	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A 1 in 160	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL4A3	Alport syndrome, autosomal recessive, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 218 1 in 329 1 in 241 1 in 361 1 in 195 1 in 190	1 in 352 1 in 532 1 in 390 1 in 584 1 in 315 1 in 6333	1 in 306801 1 in 699996 1 in 375611 1 in 842788 1 in 245908 <1 in 1,000,000	1 in 495153 <1 in 1,000,000 1 in 607270 <1 in 1,000,000 1 in 397573 <1 in 1,000,000	1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331	1 in 872 1 in 1316 1 in 964 1 in 1444 1 in 780 1 in 760	1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL4A4	Alport syndrome, autosomal recessive, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 349 1 in 369 1 in 158 1 in 415 1 in 359	1 in 565 1 in 598 1 in 256 1 in 673 1 in 582	1 in 788969 1 in 882955 1 in 161883 <1 in 1,000,000 1 in 835747	<1 in 1,000,000 <1 in 1,000,000 1 in 262438 <1 in 1,000,000 <1 in 1,000,000	1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328	1 in 1396 1 in 1476 1 in 632 1 in 1660 1 in 1436	1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL4A5	Alport syndrome, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 34,622 N/A N/A N/A N/A	1 in 72,761 N/A N/A N/A N/A	1 in 291042 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
COL4A6	?Deafness, X-linked 6	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
COL6A1	Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])	Autosomal recessive*	General population	≤1 in 500	<1 in 826	<1 in 1,000,000	<1 in 1,000,000	<1 in 3304	<1 in 2000	<1 in 3304	1 in 4
COL6A2	Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])	Autosomal recessive*	General population	≤1 in 500	<1 in 1106	<1 in 1,000,000	<1 in 1,000,000	<1 in 4423	<1 in 2000	<1 in 4423	1 in 4
COL6A3	Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])	Autosomal recessive*	General population	≤1 in 500	<1 in 1264	<1 in 1,000,000	<1 in 1,000,000	<1 in 5058	<1 in 2000	<1 in 5058	1 in 4
COL7A1	Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibial	Autosomal recessive; Autosomal recessive; Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 100 1 in 199 1 in 262 1 in 95 1 in 190	1 in 243 1 in 487 1 in 641 1 in 232 1 in 465	1 in 97259 1 in 387448 1 in 671598 1 in 88299 1 in 353195	1 in 236485 1 in 947676 <1 in 1,000,000 1 in 215974 1 in 863895	1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859	1 in 400 1 in 796 1 in 1048 1 in 380 1 in 760	1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COL9A1	Stickler syndrome, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
COL9A2	?Stickler syndrome, type V	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COLEC10	3MC syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COLEC11	3MC syndrome 2	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
COLQ	Myasthenic syndrome, congenital, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 805 1 in 674 1 in 653 1 in 992 1 in 1494	1 in 1,420 1 in 1189 1 in 1152 1 in 1751 1 in 2636	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546	1 in 3220 1 in 2696 1 in 2612 1 in 3968 1 in 5976	1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COQ2	Primary coenzyme Q10 deficiency, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
COQ4	Coenzyme Q10 deficiency, primary, type 7	Autosomal recessive	General population	≤1 in 500	<1 in 682	<1 in 1,000,000	<1 in 1,000,000	<1 in 2729	<1 in 2000	<1 in 2729	1 in 4
COQ6	Coenzyme Q10 deficiency, primary, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 1300	<1 in 1,000,000	<1 in 1,000,000	<1 in 5199	<1 in 2000	<1 in 5199	1 in 4
COQ8A	Primary coenzyme Q10 deficiency, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 743	<1 in 1,000,000	<1 in 1,000,000	<1 in 2972	<1 in 2000	<1 in 2972	1 in 4
COQ8B	Nephrotic syndrome, type 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COQ9	Coenzyme Q10 deficiency, primary, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CORO1A	Immunodeficiency, type 8	Autosomal recessive	Caucasian/European population	1 in 4038	1 in 16149	<1 in 1,000,000	<1 in 1,000,000	1 in 64596	1 in 16152	1 in 64596	1 in 4
COX10	Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial COX4 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
COX15	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 480 1 in 719 1 in 1839 1 in 159 1 in 887	1 in 640 1 in 959 1 in 2452 1 in 212 1 in 1183	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 134832 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 179776 <1 in 1,000,000	1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731	1 in 1920 1 in 2876 1 in 7356 1 in 636 1 in 3548	1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
COX20	Mitochondrial complex IV deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COX4I2	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COX6A1	Charcot-Marie-Tooth disease, recessive intermediate D	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COX6B1	Mitochondrial complex IV deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
COX7B	Linear skin defects with multiple congenital anomalies, type 2	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
CP	Aceruloplasminemia	Autosomal recessive	Caucasian/European population	1 in 497	1 in 1737	<1 in 1,000,000	<1 in 1,000,000	1 in 6948	1 in 1988	1 in 6948	1 in 4
CPA6	Febrile seizures, familial, type 11	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CPAMD8	Anterior segment dysgenesis 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CPLANE1	Joubert syndrome 17	Autosomal recessive	Caucasian/European population	1 in 50	Reduced	Reduced	Reduced	Reduced	1 in 200	Reduced	1 in 4
CPLX1	Epileptic encephalopathy, early infantile, 63	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CPN1	Carboxypeptidase N deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CPS1	Carbamoylphosphate synthetase 1 deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 343 1 in 401 1 in 221 1 in 1026 1 in 740	1 in 817 1 in 957 1 in 528 1 in 2449 1 in 1766	<1 in 1,000,000 <1 in 1,000,000 1 in 466353 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066	1 in 1372 1 in 1604 1 in 884 1 in 4104 1 in 2960	1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CPT1A	Carnitine palmitoyltransferase type 1A deficiency, hepatic	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,518 1 in 2550 1 in 1435 1 in 1924 1 in 2821	1 in 6,638 1 in 11156 1 in 6278 1 in 8418 1 in 12342	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368	1 in 6072 1 in 10200 1 in 5740 1 in 7696 1 in 11284	1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CPT2	Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantile	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 147 1 in 197 1 in 266 1 in 523 1 in 251 1 in 47	1 in 682 1 in 919 1 in 1241 1 in 2439 1 in 1171 1 in 1594	1 in 400955 1 in 723971 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 304805	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375	1 in 588 1 in 788 1 in 1064 1 in 2092 1 in 1004 1 in 191	1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CR2	Immunodeficiency, common variable, type 7	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
CRADD	Mental retardation, autosomal recessive, type 34, with variant lissencephaly	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CRB1	Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 158 1 in 116 1 in 187 1 in 531 1 in 263	1 in 203 1 in 149 1 in 241 1 in 684 1 in 339	1 in 128433 1 in 69325 1 in 180160 <1 in 1,000,000 1 in 356359	1 in 165187 1 in 89291 1 in 232046 <1 in 1,000,000 1 in 458990	1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355	1 in 632 1 in 464 1 in 748 1 in 2124 1 in 1052	1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CRB2	Ventriculomegaly with cystic kidney disease	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CRBN	Mental retardation, autosomal recessive, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
CRIPT	Short stature with microcephaly and distinctive facies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CRLF1	Cold-induced sweating syndrome type 1	Autosomal recessive	Caucasian/European population	1 in 1151	1 in 115001	<1 in 1,000,000	<1 in 1,000,000	1 in 460004	1 in 4604	1 in 460004	1 in 4
CRPPA	Muscular dystrophy-dystroglycanopathy, type A7; Muscular dystrophy-dystroglycanopathy, type C7	Autosomal recessive	General population	≤1 in 500	<1 in 1071	<1 in 1,000,000	<1 in 1,000,000	<1 in 4285	<1 in 2000	<1 in 4285	1 in 4
CRTAP	Osteogenesis imperfecta, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,416 1 in 546 1 in 1377 1 in 1059 1 in 1122	1 in 3,539 1 in 1365 1 in 3443 1 in 2648 1 in 2805	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220	1 in 5664 1 in 2184 1 in 5508 1 in 4236 1 in 4488	1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CRYAA	Cataract 9, multiple types	Autosomal recessive*	General population	≤1 in 500	<1 in 5995	<1 in 1,000,000	<1 in 1,000,000	<1 in 23980	<1 in 2000	<1 in 23980	1 in 4
CRYAB	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Cataract 16, multiple types	Autosomal recessive; Autosomal recessive*	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
CRYBB1	Cataract 17	Autosomal recessive*	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
CRYBB3	Cataract 22	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CSF2RA	Surfactant metabolism dysfunction, pulmonary, type 4	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
CSF2RB	Surfactant metabolism dysfunction, pulmonary, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
CSF3R	Neutropenia, severe congenital, type 7, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 637	<1 in 1,000,000	<1 in 1,000,000	<1 in 2547	<1 in 2000	<1 in 2547	1 in 4
CSPP1	Joubert syndrome 21	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CSTA	Peeling skin syndrome, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
CSTB	Epilepsy, progressive myoclonic type 1A (Unverricht and Lundborg)	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
CTC1	Cerebroretinal microangiopathy with calcifications and cysts	Autosomal recessive	Caucasian/European population	1 in 256	1 in 354	1 in 362575	1 in 501482	1 in 1416	1 in 1024	1 in 1416	1 in 4
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CTH	Cystathioninuria	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 7,870 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 31479 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 31479 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTNS	Nephropathic cystinosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 249 1 in 942 1 in 393 1 in 1026 1 in 1696 N/A 1 in 100	1 in 900 1 in 3415 1 in 1425 1 in 3719 1 in 6148 N/A 1 in 1000	1 in 896400 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 400000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000	1 in 996 1 in 3768 1 in 1572 1 in 4104 1 in 6784 N/A 1 in 400	1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTPS1	Immunodeficiency 24	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CTSA	Galactosialidosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 64 1 in 248 1 in 2686 1 in 310 1 in 127	1 in 118 1 in 461 1 in 4988 1 in 576 1 in 236	1 in 30208 1 in 456887 <1 in 1,000,000 1 in 713886 1 in 119815	1 in 55696 1 in 848504 <1 in 1,000,000 <1 in 1,000,000 1 in 222514	1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943	1 in 256 1 in 992 1 in 10744 1 in 1240 1 in 508	1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTSC	Haim-Munk syndrome; Papillon-Lefevre syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 2,496 1 in 2500 N/A N/A 1 in 2500	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 9984 1 in 10000 N/A N/A 1 in 10000	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 9984 1 in 10000 N/A N/A 1 in 10000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTSD	Ceroid lipofuscinosis, neuronal, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,003 1 in 1591 1 in 9179 1 in 1912 1 in 1160	1 in 4,510 1 in 7160 1 in 41306 1 in 8604 1 in 5220	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880	1 in 4012 1 in 6364 1 in 36716 1 in 7648 1 in 4640	1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CTSF	Ceroid lipofuscinosis, neuronal, 13, Kufs type	Autosomal recessive	Caucasian/European population	1 in 1773	Reduced	Reduced	Reduced	Reduced	1 in 7092	Reduced	1 in 4
CTSK	Pycnodysostosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,067 1 in 361 1 in 413 1 in 350 1 in 542	1 in 3,910 1 in 1324 1 in 1514 1 in 1283 1 in 1987	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949	1 in 4268 1 in 1444 1 in 1652 1 in 1400 1 in 2168	1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CUBN	Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome)	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
CUL4B	Mental retardation, X-linked, syndromic, type 15 (Cabezas type)	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 636,300 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CUL7	3M syndrome 1	Autosomal recessive	Caucasian/European population	1 in 409	1 in 1005	<1 in 1,000,000	<1 in 1,000,000	1 in 4021	1 in 1636	1 in 4021	1 in 4
CWC27	Retinitis pigmentosa with or without skeletal anomalies	Autosomal recessive	Caucasian/European population	1 in 910	Reduced	Reduced	Reduced	Reduced	1 in 3640	Reduced	1 in 4
CWF19L1	Spinocerebellar ataxia, autosomal recessive, type 17	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CYB5A	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
CYB5R3	Methemoglobinemia, type 1; Methemoglobinemia, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 962	<1 in 1,000,000	<1 in 1,000,000	<1 in 3846	<1 in 2000	<1 in 3846	1 in 4
CYBA	Chronic granulomatous disease, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,689 1 in 806 N/A 1 in 1896 1 in 1933 <1 in 500 1 in 13	1 in 1930 1 in 921 N/A 1 in 2167 1 in 2209 1 in 67167 1 in 65	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 3380	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 16900	1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260	1 in 6756 1 in 3224 N/A 1 in 7584 1 in 7732 1 in 8060 1 in 52	1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYBB	Chronic granulomatous disease, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 100,000 N/A N/A N/A N/A	1 in 250,000 N/A N/A N/A N/A	1 in 999999 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
CYC1	Mitochondrial complex III deficiency, nuclear type 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CYP11A1	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 917	<1 in 1,000,000	<1 in 1,000,000	<1 in 3667	<1 in 2000	<1 in 3667	1 in 4
CYP11B1	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 792 1 in 792 1 in 1485 1 in 284 1 in 339	1 in 1,955 1 in 1957 1 in 3669 1 in 702 1 in 838	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 797071 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350	1 in 3168 1 in 3168 1 in 5940 1 in 1136 1 in 1356	1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP11B2	Hypoaldosteronism, congenital, due to CMO I deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 825 1 in 502 1 in 1457 1 in 1917 1 in 945 N/A 1 in 30	1 in 943 1 in 574 1 in 1665 1 in 2191 1 in 1080 N/A 1 in 600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 72000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400	1 in 3300 1 in 2008 1 in 5828 1 in 7668 1 in 3780 N/A 1 in 120	1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP17A1	17 alpha(α)-hydroxylase/17,20-lyase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 560 1 in 2147 1 in 409 1 in 1018 1 in 1313	1 in 679 1 in 2602 1 in 496 1 in 1234 1 in 1592	<1 in 1,000,000 <1 in 1,000,000 1 in 811059 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 983102 <1 in 1,000,000 <1 in 1,000,000	1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366	1 in 2240 1 in 8588 1 in 1636 1 in 4072 1 in 5252	1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP19A1	Aromatase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,159 1 in 671 1 in 559 1 in 905 1 in 1009	1 in 3,532 1 in 1098 1 in 915 1 in 1481 1 in 1651	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604	1 in 8636 1 in 2684 1 in 2236 1 in 3620 1 in 4036	1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP1B1	Glaucoma, primary congenital, type 3A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 196 1 in 246 1 in 339 1 in 325 1 in 1667	1 in 407 1 in 513 1 in 706 1 in 677 1 in 3473	1 in 319284 1 in 504300 1 in 957675 1 in 880208 <1 in 1,000,000	1 in 663410 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892	1 in 784 1 in 984 1 in 1356 1 in 1300 1 in 6668	1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP21A2	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 62 1 in 79 1 in 62 1 in 42-59 1 in 73 1 in 40	1 in 1,228 1 in 439 1 in 620 1 in 500 1 in 730 1 in 500	1 in 306412 1 in 138689 1 in 153760 1 in 100000 1 in 213160 1 in 80000	<1 in 1,000,000 1 in 770494 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 1 in 1000000	1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000	1 in 249 1 in 316 1 in 248 1 in 200 1 in 292 1 in 160	1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP24A1	Hypercalcemia, infantile, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
CYP26B1	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CYP26C1	Focal facial dermal dysplasia 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CYP27A1	Cerebrotendinous xanthomatosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 275 1 in 285 1 in 122 1 in 143 1 in 302 1 in 331	1 in 1,113 1 in 1157 1 in 495 1 in 580 1 in 1226 1 in 33100	<1 in 1,000,000 <1 in 1,000,000 1 in 241646 1 in 331996 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 980799 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400	1 in 1100 1 in 1140 1 in 488 1 in 572 1 in 1208 1 in 1324	1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP27B1	Vitamin D-dependent rickets, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
CYP2R1	Rickets due to defect in vitamin D 25-hydroxylation	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CYP2U1	Spastic paraplegia 56, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
CYP4F22	Ichthyosis, congenital, autosomal recessive, type 5	Autosomal recessive	Caucasian/European population	1 in 901	1 in 1383	<1 in 1,000,000	<1 in 1,000,000	1 in 5533	1 in 3604	1 in 5533	1 in 4
CYP4V2	Bietti crystalline corneoretinal dystrophy	Autosomal recessive	General population	≤1 in 500	<1 in 769	<1 in 1,000,000	<1 in 1,000,000	<1 in 3078	<1 in 2000	<1 in 3078	1 in 4
CYP7B1	Spastic paraplegia type 5A, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 324	1 in 521	1 in 675720	<1 in 1,000,000	1 in 2086	1 in 1296	1 in 2086	1 in 4
D2HGDH	D-2-hydroxyglutaric aciduria	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DAG1	Muscular dystrophy-dystroglycanopathy type A9; Muscular dystrophy-dystroglycanopathy type C9	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
DARS1	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	Autosomal recessive	General population	≤1 in 500	<1 in 912	<1 in 1,000,000	<1 in 1,000,000	<1 in 3647	<1 in 2000	<1 in 3647	1 in 4
DBH	Dopamine beta-hydroxylase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
DBT	Maple syrup urine disease, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 410 1 in 480 <1 in 500 1 in 280 1 in 480	1 in 40,900 1 in 48000 1 in 50000 1 in 28000 1 in 48000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000	1 in 1640 1 in 1920 1 in 2000 1 in 1120 1 in 1920	1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DCAF17	Woodhouse-Sakati syndrome	Autosomal recessive	Caucasian/European population	1 in 1053	1 in 1974	<1 in 1,000,000	<1 in 1,000,000	1 in 7894	1 in 4212	1 in 7894	1 in 4
DCC	Gaze palsy, familial horizontal, with progressive scoliosis, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1312	<1 in 1,000,000	<1 in 1,000,000	<1 in 5249	<1 in 2000	<1 in 5249	1 in 4
DCDC2	Sclerosing cholangitis, neonatal; Nephronophthisis 19	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
DCHS1	Van Maldergem syndrome 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DCLRE1C	Omenn syndrome; Severe combined immunodeficiency, Athabascan type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 903 1 in 511 1 in 958 1 in 901 1 in 1907	1 in 1,410 1 in 798 1 in 1497 1 in 1408 1 in 2980	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919	1 in 3612 1 in 2044 1 in 3832 1 in 3604 1 in 7628	1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DCPS	Al-Raqad syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DCX	Lissencephaly, X-linked, type 1	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	1 in 158,748 N/A N/A N/A N/A	1 in 634991 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
DDB2	Xeroderma pigmentosum, complementation group E	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 3,138 1 in 5766 1 in 1533 1 in 15308 1 in 8129	1 in 15,686 1 in 28830 1 in 7665 1 in 76540 1 in 40645	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580	1 in 12552 1 in 23064 1 in 6132 1 in 61232 1 in 32516	1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DDC	Aromatic L-amino acid decarboxylase deficiency	Autosomal recessive	Caucasian/European population	1 in 976	1 in 1394	<1 in 1,000,000	<1 in 1,000,000	1 in 5575	1 in 3904	1 in 5575	1 in 4
DDHD1	Spastic paraplegia 28, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DDHD2	Spastic paraplegia 54, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DDR2	Spondylometaepiphyseal dysplasia, short limb-hand type	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
DDRGK1	Spondyloepimetaphyseal dysplasia, Shohat type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DDX11	Warsaw breakage syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
DDX3X	Mental retardation, X-linked, type 102	X-linked	General population	≤1 in 500	<1 in 572581	<1 in 1,000,000	-	-	1 in 4	-	-
DDX59	Orofaciodigital syndrome V	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DENND5A	Epileptic encephalopathy, early infantile, 49	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DES	Myopathy, myofibrillar, type 1	Autosomal recessive*	General population	≤1 in 500	<1 in 724	<1 in 1,000,000	<1 in 1,000,000	<1 in 2895	<1 in 2000	<1 in 2895	1 in 4
DGAT1	?Diarrhea 7, protein-losing enteropathy type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DGKE	Nephrotic syndrome, type 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DGUOK	DGUOK-related mitochondrial DNA depletion syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 3123	<1 in 1,000,000	<1 in 1,000,000	<1 in 12492	<1 in 2000	<1 in 12492	1 in 4
DHCR24	Desmosterolosis	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
DHCR7	Smith-Lemli-Opitz syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 70 1 in 51 1 in 357 1 in 334 1 in 118 1 in 38	1 in 1,756 1 in 1275 1 in 8925 1 in 8350 1 in 2950 1 in 1278	1 in 500310 1 in 260100 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 195970	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112	1 in 285 1 in 204 1 in 1428 1 in 1336 1 in 472 1 in 153	1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DHDDS	Retinitis pigmentosa, type 59	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 6,008 1 in 4291 N/A 1 in 6490 1 in 4223 1 in 117	1 in 8,010 1 in 5721 N/A 1 in 8653 1 in 5631 1 in 3900	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600	1 in 24032 1 in 17164 N/A 1 in 25960 1 in 16892 1 in 468	1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DHFR	Megaloblastic anemia due to dihydrofolate reductase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
DHH	46,XY complete gonadal dysgenesis	Autosomal recessive	General population	≤1 in 500	<1 in 688	<1 in 1,000,000	<1 in 1,000,000	<1 in 2751	<1 in 2000	<1 in 2751	1 in 4
DHODH	Miller syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
DHPS	Neurodevelopmental disorder with seizures and speech and walking impairment	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DHTKD1	2-aminoadipic 2-oxoadipic aciduria	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DIAPH1	Seizures, cortical blindness, microcephaly syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 654	<1 in 1,000,000	<1 in 1,000,000	<1 in 2617	<1 in 2000	<1 in 2617	1 in 4
DIS3L2	Perlman syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 616	<1 in 1,000,000	<1 in 1,000,000	<1 in 2463	<1 in 2000	<1 in 2463	1 in 4
DKC1	Dyskeratosis congenita, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 250,000 N/A N/A N/A N/A	1 in 459,999 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
DLAT	Pyruvate dehydrogenase E2 deficiency	Autosomal recessive	Caucasian/European population	1 in 1265	1 in 3161	<1 in 1,000,000	<1 in 1,000,000	1 in 12644	1 in 5060	1 in 12644	1 in 4
DLD	Dihydrolipoamide dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,506 1 in 500 1 in 2252 1 in 1183 1 in 1684 1 in 100	1 in 14,549 1 in 4833 1 in 21769 1 in 11436 1 in 16279 1 in 2002	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 801274	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006	1 in 6024 1 in 2000 1 in 9008 1 in 4732 1 in 6736 1 in 400	1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DLG3	Mental retardation, X-linked, type 90	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 100,000 N/A N/A N/A N/A	1 in 395995 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
DLL3	Spondylocostal dysostosis type 1	Autosomal recessive	General population	≤1 in 500	<1 in 2748	<1 in 1,000,000	<1 in 1,000,000	<1 in 10993	<1 in 2000	<1 in 10993	1 in 4
DMD	Duchenne/Becker muscular dystrophy	X-linked	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 2,942 N/A N/A N/A N/A N/A	1 in 58,819 N/A N/A N/A N/A N/A	1 in 235277 N/A N/A N/A N/A N/A	- - - - - -	- - - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - - -	- - - - - -
DMGDH	Dimethylglycine dehydrogenase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DMP1	Hypophosphatemic rickets, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DMXL2	Developmental and epileptic encephalopathy, type 81	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DNAAF1	Ciliary dyskinesia, primary, type 13	Autosomal recessive	General population	≤1 in 500	<1 in 864	<1 in 1,000,000	<1 in 1,000,000	<1 in 3455	<1 in 2000	<1 in 3455	1 in 4
DNAAF2	Ciliary dyskinesia, primary, type 10	Autosomal recessive	General population	≤1 in 500	<1 in 572	<1 in 1,000,000	<1 in 1,000,000	<1 in 2287	<1 in 2000	<1 in 2287	1 in 4
DNAAF3	Ciliary dyskinesia, primary, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 709	<1 in 1,000,000	<1 in 1,000,000	<1 in 2835	<1 in 2000	<1 in 2835	1 in 4
DNAAF4	Ciliary dyskinesia, primary, type 25	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
DNAAF5	Ciliary dyskinesia, primary, type 18	Autosomal recessive	General population	≤1 in 500	<1 in 637	<1 in 1,000,000	<1 in 1,000,000	<1 in 2547	<1 in 2000	<1 in 2547	1 in 4
DNAAF6	Ciliary dyskinesia, primary, 36, X-linked	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
DNAH1	Spermatogenic failure 18	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DNAH11	Ciliary dyskinesia, primary, type 7, with or without situs inversus	Autosomal recessive	General population	≤1 in 500	<1 in 799	<1 in 1,000,000	<1 in 1,000,000	<1 in 3195	<1 in 2000	<1 in 3195	1 in 4
DNAH5	Ciliary dyskinesia, primary, type 3, with or without situs inversus	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 87 1 in 169 1 in 193 1 in 326 1 in 204 1 in 144	1 in 283 1 in 331 1 in 378 1 in 639 1 in 400 1 in 4567	1 in 58435 1 in 223777 1 in 291848 1 in 832678 1 in 326064 <1 in 1,000,000	1 in 113814 1 in 438326 1 in 571661 <1 in 1,000,000 1 in 638681 <1 in 1,000,000	1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269	1 in 346 1 in 676 1 in 772 1 in 1304 1 in 816 1 in 548	1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DNAH9	Ciliary dyskinesia, primary, 40	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DNAI1	Ciliary dyskinesia, primary, type 1, with or without situs inversus	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 323 1 in 434 N/A 1 in 1184 1 in 1140 1 in 366	1 in 556 1 in 747 N/A 1 in 2039 1 in 1963 1 in 36546	1 in 717778 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186	1 in 1292 1 in 1736 N/A 1 in 4736 1 in 4560 1 in 1462	1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DNAI2	Ciliary dyskinesia, primary, type 9, with or without situs inversus	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 758 1 in 414 1 in 1437 1 in 669 1 in 632 1 in 200	1 in 1,248 1 in 682 1 in 2367 1 in 1102 1 in 1041 1 in 20000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000	1 in 3032 1 in 1656 1 in 5748 1 in 2676 1 in 2528 1 in 800	1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DNAJB13	Ciliary dyskinesia, primary, 34	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DNAJB2	Spinal muscular atrophy, distal, autosomal recessive, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1666	<1 in 1,000,000	<1 in 1,000,000	<1 in 6664	<1 in 2000	<1 in 6664	1 in 4
DNAJC12	Hyperphenylalaninemia, mild, non-BH4-deficient	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DNAJC19	3-methylglutaconic aciduria, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
DNAJC21	Bone marrow failure syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DNAJC6	Parkinson disease, type 19A, juvenile-onset; Parkinson disease, type 19B, early-onset	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
DNAL1	Ciliary dyskinesia, primary, type 16	Autosomal recessive	General population	<1 in 500	<1 in 666	<1 in 1,000,000	<1 in 1,000,000	<1 in 2665	<1 in 2000	<1 in 2665	1 in 4
DNASE1L3	Systemic lupus erythematosus 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DNM1L	Encephalopathy due to defective mitochondrial and peroxisomal fission, type 1	Autosomal recessive*	General population	≤1 in 500	<1 in 695	<1 in 1,000,000	<1 in 1,000,000	<1 in 2779	<1 in 2000	<1 in 2779	1 in 4
DNM2	Lethal congenital contracture syndrome, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1562	<1 in 1,000,000	<1 in 1,000,000	<1 in 6248	<1 in 2000	<1 in 6248	1 in 4
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome, type 1	Autosomal recessive	Caucasian/European population	1 in 2684	1 in 5367	<1 in 1,000,000	<1 in 1,000,000	1 in 21468	1 in 10736	1 in 21468	1 in 4
DOCK2	Immunodeficiency 40	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DOCK6	Adams-Oliver syndrome 2	Autosomal recessive	General population	≤1 in 500	<1 in 909	<1 in 1,000,000	<1 in 1,000,000	<1 in 3637	<1 in 2000	<1 in 3637	1 in 4
DOCK7	Epileptic encephalopathy, early infantile, 23	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 221	1 in 595	1 in 525980	<1 in 1,000,000	1 in 2380	1 in 884	1 in 2380	1 in 4
DOK7	Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 262 1 in 178 1 in 255 1 in 193 1 in 255	1 in 719 1 in 490 1 in 701 1 in 531 1 in 701	1 in 753250 1 in 348524 1 in 715275 1 in 409739 1 in 715275	<1 in 1,000,000 1 in 958441 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805	1 in 1048 1 in 712 1 in 1020 1 in 772 1 in 1020	1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DOLK	Congenital disorder of glycosylation, type 1M	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 563 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2252 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 2252 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DONSON	Microcephaly, short stature, and limb abnormalities	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DPAGT1	Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 808 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3232 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 3232 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DPH1	Developmental delay with short stature, dysmorphic features, and sparse hair	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DPM1	Congenital disorder of glycosylation, type 1E	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,750 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6997 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 6997 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DPM2	Congenital disorder of glycosylation, type Iu	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DPM3	Congenital disorder of glycosylation, type Io	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DPY19L2	Male infertility spermatogenic failure, type 9	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
DPYD	Dihydropyrimidine dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 558 1 in 710 1 in 196 1 in 248 1 in 970	1 in 55,701 1 in 71000 1 in 19600 1 in 24800 1 in 97000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000	1 in 2232 1 in 2840 1 in 784 1 in 992 1 in 3880	1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DPYS	Dihydropyrimidinuria	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
DRAM2	Cone-rod dystrophy 21	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DRC1	Ciliary dyskinesia, primary, 21	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DSE	Ehlers-Danlos syndrome, musculocontractural type 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DSG1	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
DSG4	Hypotrichosis, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
DSP	Cardiomyopathy, dilated, with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DST	Epidermolysis bullosa simplex, autosomal recessive, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 723	<1 in 1,000,000	<1 in 1,000,000	<1 in 2890	<1 in 2000	<1 in 2890	1 in 4
DSTYK	Spastic paraplegia 23	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DTNBP1	Hermansky-Pudlak syndrome 7	Autosomal recessive	Caucasian/European population	1 in 295	1 in 29401	<1 in 1,000,000	<1 in 1,000,000	1 in 117604	1 in 1180	1 in 117604	1 in 4
DUOX2	Thyroid dyshormonogenesis, type 6	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 170 N/A N/A N/A N/A	1 in 54064 N/A N/A N/A N/A	1 in 115077 N/A N/A N/A N/A	1 in 678 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 678 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DUOXA2	Thyroid dyshormonogenesis, type 5	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 144 N/A N/A N/A N/A	1 in 45921 N/A N/A N/A N/A	1 in 83021 N/A N/A N/A N/A	1 in 576 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 576 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DYM	Smith-McCort dysplasia; Dyggve-Melchior-Clausen disease	Autosomal recessive	General population	≤1 in 500	<1 in 1056	<1 in 1,000,000	<1 in 1,000,000	<1 in 4222	<1 in 2000	<1 in 4222	1 in 4
DYNC2H1	Short-rib thoracic dysplasia, type 3, with or without polydactyly	Autosomal recessive	General population	≤1 in 500	<1 in 809	<1 in 1,000,000	<1 in 1,000,000	<1 in 3236	<1 in 2000	<1 in 3236	1 in 4
DYNC2I1	Short-rib thoracic dysplasia 8 with or without polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DYNC2I2	Short-rib thoracic dysplasia 11 with or without polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DYNC2LI1	Short-rib thoracic dysplasia 15 with polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DYNLT2B	Short-rib thoracic dysplasia 17 with or without polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
DYSF	Miyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 199 1 in 118 1 in 141 1 in 199 1 in 182 N/A 1 in 13	1 in 1,050 1 in 625 1 in 747 1 in 1054 1 in 964 N/A 1 in 433	1 in 835783 1 in 295070 1 in 421308 1 in 839204 1 in 701947 N/A 1 in 22533	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 751111	1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733	1 in 796 1 in 472 1 in 564 1 in 796 1 in 728 N/A 1 in 52	1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
DZIP1L	Polycystic kidney disease 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EARS2	Combined oxidative phosphorylation deficiency 12	Autosomal recessive	General population	≤1 in 500	<1 in 559	<1 in 1,000,000	<1 in 1,000,000	<1 in 2237	<1 in 2000	<1 in 2237	1 in 4
EBP	MEND syndrome; Chondrodysplasia punctata	X-linked	General population	≤1 in 500	<1 in 1095238	<1 in 1,000,000	-	-	1 in 4	-	-
ECEL1	Arthrogryposis, distal, type 5D	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ECM1	Urbach-Wiethe disease	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
EDA	Ectodermal dysplasia, type 1, hypohidrotic, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 5,715 N/A N/A N/A N/A	1 in 10,610 N/A N/A N/A N/A	1 in 42442 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
EDAR	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 131 1 in 65 N/A N/A 1 in 65	1 in 252 1 in 125 N/A N/A 1 in 125	1 in 132544 1 in 32602 N/A N/A 1 in 32602	1 in 254752 1 in 62892 N/A N/A 1 in 62892	1 in 1009 1 in 502 N/A N/A 1 in 502	1 in 525 1 in 260 N/A N/A 1 in 260	1 in 1009 1 in 502 N/A N/A 1 in 502	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EDARADD	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type	Autosomal recessive	General population	1 in 385	1 in 514	1 in 791895	<1 in 1,000,000	1 in 2054	1 in 1542	1 in 2054	1 in 4
EDN1	Auriculocondylar syndrome, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
EDN3	Waardenburg syndrome, type 4B	Autosomal recessive	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
EDNRB	ABCD syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1071	<1 in 1,000,000	<1 in 1,000,000	<1 in 4285	<1 in 2000	<1 in 4285	1 in 4
EFEMP2	Cutis laxa, autosomal recessive, type 1B	Autosomal recessive	Caucasian/European population	1 in 2457	1 in 5220	<1 in 1,000,000	<1 in 1,000,000	1 in 20880	1 in 9828	1 in 20880	1 in 4
EFL1	Shwachman-Diamond syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EFNB1	Craniofrontonasal dysplasia	X-linked	General population	≤1 in 500	<1 in 1178571	<1 in 1,000,000	-	-	1 in 4	-	-
EGF	Hypomagnesemia 4, renal	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EGFR	?Inflammatory skin and bowel disease, neonatal, 2	Autosomal recessive	General population	≤1 in 500	<1 in 550	<1 in 1,000,000	<1 in 1,000,000	<1 in 2202	<1 in 2000	<1 in 2202	1 in 4
EGR2	Dejerine-Sottas disease	Autosomal recessive*	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
EIF2AK3	Wolcott-Rallison syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 2,500 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 9984 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 9984 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EIF2AK4	Pulmonary venoocclusive disease 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EIF2B1	Leukoencephalopathy with vanishing white matter	Autosomal recessive	Caucasian/European population	1 in 153	Reduced	Reduced	Reduced	Reduced	1 in 612	Reduced	1 in 4
EIF2B2	Leukoencephalopathy with vanishing white matter	Autosomal recessive	Caucasian/European population	1 in 227	1 in 289	1 in 262082	1 in 333244	1 in 1155	1 in 908	1 in 1155	1 in 4
EIF2B3	Leukoencephalopathy with vanishing white matter	Autosomal recessive	Caucasian/European population	1 in 414	1 in 965	<1 in 1,000,000	<1 in 1,000,000	1 in 3859	1 in 1656	1 in 3859	1 in 4
EIF2B4	Leukoencephalopathy with vanishing white matter	Autosomal recessive	Caucasian/European population	1 in 2121	1 in 2474	<1 in 1,000,000	<1 in 1,000,000	1 in 9897	1 in 8484	1 in 9897	1 in 4
EIF2B5	Leukoencephalopathy with vanishing white matter	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 390 1 in 940 1 in 1502 1 in 3078 1 in 458	1 in 974 1 in 2350 1 in 3755 1 in 7695 1 in 1145	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580	1 in 1560 1 in 3760 1 in 6008 1 in 12312 1 in 1832	1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EIF2S3	MEHMO syndrome	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
EIF4A3	Robin sequence with cleft mandible and limb anomalies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ELAC2	Combined oxidative phosphorylation deficiency 17	Autosomal recessive	General population	≤1 in 500	<1 in 688	<1 in 1,000,000	<1 in 1,000,000	<1 in 2751	<1 in 2000	<1 in 2751	1 in 4
ELMO2	Vascular malformation, primary intraosseous	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ELOVL4	Ichthyosis, spastic quadriplegia, and mental retardation	Autosomal recessive	General population	≤1 in 500	<1 in 1624	<1 in 1,000,000	<1 in 1,000,000	<1 in 6498	<1 in 2000	<1 in 6498	1 in 4
ELP1	Familial dysautonomia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 506 1 in 808 1 in 657 1 in 853 1 in 594 1 in 34	1 in 621 1 in 992 1 in 807 1 in 1047 1 in 729 1 in 2692	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 376923	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769	1 in 2024 1 in 3232 1 in 2628 1 in 3412 1 in 2376 1 in 140	1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ELP2	Mental retardation, autosomal recessive, type 58	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
EMC1	Cerebellar atrophy, visual impairment, and psychomotor retardation	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EMD	Emery-Dreifuss muscular dystrophy, type 1, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 88,496 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
EMG1	Bowen-Conradi syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EML1	Band heterotopia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EMP2	Nephrotic syndrome, type 10	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ENAM	Amelogenesis imperfecta, type 1C	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
ENO3	?Glycogen storage disease XIII	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ENPP1	Arterial calcification, generalized, of infancy, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1785	<1 in 1,000,000	<1 in 1,000,000	<1 in 7140	<1 in 2000	<1 in 7140	1 in 4
ENTPD1	Spastic paraplegia, type 64, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
EOGT	Adams-Oliver syndrome 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EPB41	Elliptocytosis, type 1	Autosomal recessive*	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
EPB42	Spherocytosis, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
EPCAM	Intestinal epithelial dysplasia (diarrhea type 5)	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
EPG5	Vici syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EPM2A	Epilepsy, progressive myoclonic, type 2A (Lafora)	Autosomal recessive	General population	≤1 in 500	<1 in 724	<1 in 1,000,000	<1 in 1,000,000	<1 in 2896	<1 in 2000	<1 in 2896	1 in 4
EPRS1	Leukodystrophy, hypomyelinating, 15	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EPS8L2	Deafness autosomal recessive 106	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ERAL1	Perrault syndrome 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ERBB3	Lethal congenital contractural syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 550	<1 in 1,000,000	<1 in 1,000,000	<1 in 2202	<1 in 2000	<1 in 2202	1 in 4
ERCC1	Cerebrooculofacioskeletal syndrome, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
ERCC2	Trichothiodystrophy, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 154 1 in 243 1 in 49 1 in 54 1 in 222	1 in 1,378 1 in 2187 1 in 441 1 in 486 1 in 1998	1 in 848848 <1 in 1,000,000 1 in 86436 1 in 104976 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 777924 1 in 944784 <1 in 1,000,000	1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992	1 in 616 1 in 972 1 in 196 1 in 216 1 in 888	1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC3	Trichothiodystrophy, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 436 1 in 363 1 in 486 1 in 958 1 in 533	1 in 1,306 1 in 1089 1 in 1458 1 in 2874 1 in 1599	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396	1 in 1744 1 in 1452 1 in 1944 1 in 3832 1 in 2132	1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC4	Fanconi anemia, complementation group Q	Autosomal recessive	Caucasian/European population	1 in 313	Reduced	Reduced	Reduced	Reduced	1 in 1252	Reduced	1 in 4
ERCC5	Cerebrooculofacioskeletal syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 970 1 in 909 1 in 703 1 in 279 1 in 878	1 in 96,901 1 in 90900 1 in 70300 1 in 27900 1 in 87800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200	1 in 3880 1 in 3636 1 in 2812 1 in 1116 1 in 3512	1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC6	Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 335 1 in 214 1 in 241 1 in 431 1 in 419	1 in 3,132 1 in 2006 1 in 2259 1 in 4041 1 in 3928	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713	1 in 1340 1 in 856 1 in 964 1 in 1724 1 in 1676	1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERCC6L2	Bone marrow failure syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ERCC8	Cockayne syndrome, type A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,080 1 in 1557 1 in 1006 1 in 1387 1 in 218	1 in 2,670 1 in 3852 1 in 2489 1 in 3431 1 in 539	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 470237	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157	1 in 4320 1 in 6228 1 in 4024 1 in 5548 1 in 872	1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ERLIN1	Spastic paraplegia 62	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ERLIN2	Spastic paraplegia, type 18, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
ESCO2	Roberts syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,395 1 in 671 1 in 950 1 in 1378 1 in 3312	1 in 18,820 1 in 9059 1 in 12825 1 in 18603 1 in 44712	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848	1 in 5580 1 in 2684 1 in 3800 1 in 5512 1 in 13248	1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ESPN	Deafness, autosomal recessive, type 36	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
ESR1	Estrogen resistance	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
ESRRB	Deafness, autosomal recessive, type 35	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
ETFA	Glutaric acidemia, type 2A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 857 1 in 939 1 in 1246 1 in 1099 1 in 3383	1 in 2,284 1 in 2504 1 in 3323 1 in 2931 1 in 9021	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085	1 in 3428 1 in 3756 1 in 4984 1 in 4396 1 in 13532	1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ETFB	Glutaric acidemia, type 2B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,593 1 in 821 1 in 9195 1 in 1021 1 in 8122	1 in 2,230 1 in 1149 1 in 12873 1 in 1429 1 in 11371	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483	1 in 6372 1 in 3284 1 in 36780 1 in 4084 1 in 32488	1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ETFDH	Glutaric acidemia, type 2C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 336 1 in 343 1 in 89 1 in 733 1 in 586	1 in 615 1 in 629 1 in 163 1 in 1344 1 in 1074	1 in 826784 1 in 862759 1 in 58087 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 106493 <1 in 1,000,000 <1 in 1,000,000	1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297	1 in 1344 1 in 1372 1 in 356 1 in 2932 1 in 2344	1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ETHE1	Ethylmalonic encephalopathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,279 1 in 1897 N/A 1 in 3848 1 in 934	1 in 4,794 1 in 7114 N/A 1 in 14430 1 in 3503	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010	1 in 5116 1 in 7588 N/A 1 in 15392 1 in 3736	1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EVC	Ellis-van Creveld syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 370 1 in 555 1 in 456 1 in 1486 1 in 1199	1 in 739 1 in 1110 1 in 912 1 in 2972 1 in 2398	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592	1 in 1480 1 in 2220 1 in 1824 1 in 5944 1 in 4796	1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EVC2	Ellis-van Creveld syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 240 N/A N/A N/A N/A	1 in 718 N/A N/A N/A N/A	1 in 689280 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2872 N/A N/A N/A N/A	1 in 960 N/A N/A N/A N/A	1 in 2872 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EXOSC2	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EXOSC3	Pontocerebellar hypoplasia, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 139 1 in 287 1 in 336 1 in 213 1 in 507	1 in 300 1 in 622 1 in 728 1 in 462 1 in 1099	1 in 166800 1 in 713865 1 in 978432 1 in 393198 <1 in 1,000,000	1 in 360000 <1 in 1,000,000 <1 in 1,000,000 1 in 851929 <1 in 1,000,000	1 in 1200 1 in 2487 1 in 2912 1 in 1846 1 in 4394	1 in 556 1 in 1148 1 in 1344 1 in 852 1 in 2028	1 in 1200 1 in 2487 1 in 2912 1 in 1846 1 in 4394	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
EXOSC8	Pontocerebellar hypoplasia, type 1C	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EXPH5	Epidermolysis bullosa, nonspecific, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
EXT1	Chondrosarcoma	Autosomal recessive	General population	≤1 in 500	<1 in 616	<1 in 1,000,000	<1 in 1,000,000	<1 in 2464	<1 in 2000	<1 in 2464	1 in 4
EXTL3	Immunoskeletal dysplasia with neurodevelopmental abnormalities	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
EYS	Retinitis pigmentosa, type 25	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 82 1 in 71 1 in 53 1 in 168 1 in 152 1 in 109	1 in 139 1 in 121 1 in 91 1 in 287 1 in 260 1 in 3633	1 in 45751 1 in 34474 1 in 19210 1 in 193016 1 in 158002 <1 in 1,000,000	1 in 77823 1 in 58939 1 in 32843 1 in 329995 1 in 270132 <1 in 1,000,000	1 in 558 1 in 486 1 in 362 1 in 1149 1 in 1039 1 in 14533	1 in 328 1 in 284 1 in 212 1 in 672 1 in 608 1 in 436	1 in 558 1 in 486 1 in 362 1 in 1149 1 in 1039 1 in 14533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F10	Factor X deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
F11	Factor XI deficiency	Autosomal recessive*	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 500 1 in 500 1 in 94 1 in 217 1 in 500 1 in 12	N/A N/A N/A N/A N/A 1 in 230	N/A N/A N/A N/A N/A 1 in 10580	N/A N/A N/A N/A N/A 1 in 211600	N/A N/A N/A N/A N/A 1 in 920	1 in 720 1 in 2000 1 in 376 1 in 868 1 in 2000 1 in 46	N/A N/A N/A N/A N/A 1 in 920	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F13A1	Factor XIIIA deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 958	<1 in 1,000,000	<1 in 1,000,000	<1 in 3834	<1 in 2000	<1 in 3834	1 in 4
F13B	Factor XIIIB deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
F2	Prothrombin deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 415 N/A N/A N/A N/A	1 in 1,325 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5300 N/A N/A N/A N/A	1 in 1659 N/A N/A N/A N/A	1 in 5300 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F5	Factor V deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
F7	Factor VII deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 653	<1 in 1,000,000	<1 in 1,000,000	<1 in 2610	<1 in 2000	<1 in 2610	1 in 4
F8	Hemophilia A	X-linked	General African/African American East Asian South Asian Latino	1 in 4,635 N/A N/A N/A N/A	<1 in 16,550 N/A N/A N/A N/A	1 in 66207 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
F9	Hemophilia B	X-linked	General African/African American East Asian South Asian Latino	1 in 15,000 1 in 20000 N/A N/A 1 in 20000	<1 in 29,000 1 in 38289 N/A N/A 1 in 38289	1 in 114866 1 in 153154 N/A N/A 1 in 153154	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
FA2H	Spastic paraplegia, type 35, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 1669	1 in 2284	<1 in 1,000,000	<1 in 1,000,000	1 in 9134	1 in 6676	1 in 9134	1 in 4
FADD	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FAH	Tyrosinemia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 259 1 in 359 N/A 1 in 592 1 in 682 1 in 147	1 in 925 1 in 1285 N/A 1 in 2120 1 in 2442 1 in 4881	1 in 957993 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3699 1 in 5141 N/A 1 in 8478 1 in 9767 1 in 19522	1 in 1036 1 in 1436 N/A 1 in 2368 1 in 2728 1 in 586	1 in 3699 1 in 5141 N/A 1 in 8478 1 in 9767 1 in 19522	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FAM126A	Hypomyelinating leukodystrophy, type 5	Autosomal recessive	Caucasian/European population	1 in 874	1 in 3057	<1 in 1,000,000	<1 in 1,000,000	1 in 12226	1 in 3496	1 in 12226	1 in 4
FAM161A	Retinitis pigmentosa, type 28	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 343 1 in 488 1 in 1450 1 in 716 1 in 1104 1 in 214	1 in 856 1 in 1220 1 in 3625 1 in 1790 1 in 2760 1 in 7133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3424 1 in 4880 1 in 14500 1 in 7160 1 in 11040 1 in 28533	1 in 1372 1 in 1952 1 in 5800 1 in 2864 1 in 4416 1 in 856	1 in 3424 1 in 4880 1 in 14500 1 in 7160 1 in 11040 1 in 28533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FAM20A	Amelogenesis imperfecta, type 1G (Enamel-renal syndrome)	Autosomal recessive	General population	≤1 in 500	<1 in 2748	<1 in 1,000,000	<1 in 1,000,000	<1 in 10993	<1 in 2000	<1 in 10993	1 in 4
FAM20C	Raine syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FAN1	Interstitial nephritis, karyomegalic	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FANCA	Fanconi anemia, complementation group A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 148 1 in 157 1 in 182 1 in 257 1 in 278 1 in 251	1 in 269 1 in 287 1 in 332 1 in 469 1 in 508 1 in 2510	1 in 159484 1 in 180021 1 in 241917 1 in 482380 1 in 564434 <1 in 1,000,000	1 in 290303 1 in 328690 1 in 441702 1 in 880751 <1 in 1,000,000 <1 in 1,000,000	1 in 1078 1 in 1147 1 in 1329 1 in 1877 1 in 2030 1 in 10040	1 in 592 1 in 628 1 in 728 1 in 1028 1 in 1112 1 in 1004	1 in 1078 1 in 1147 1 in 1329 1 in 1877 1 in 2030 1 in 10040	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FANCB	Fanconi anemia, complementation group B	X-linked	General population	≤1 in 500	<1 in 562500	<1 in 1,000,000	-	-	1 in 4	-	-
FANCC	Fanconi anemia, complementation group C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 431 1 in 486 1 in 344 1 in 1025 1 in 1121 1 in 93	1 in 1,514 1 in 1710 1 in 1210 1 in 3606 1 in 3944 1 in 9373	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6056 1 in 6840 1 in 4841 1 in 14426 1 in 15777 1 in 37494	1 in 1724 1 in 1944 1 in 1376 1 in 4100 1 in 4484 1 in 375	1 in 6056 1 in 6840 1 in 4841 1 in 14426 1 in 15777 1 in 37494	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FANCD2	Fanconi anemia, complementation group D2	Autosomal recessive	Caucasian/European population	1 in 177	1 in 250	1 in 177236	1 in 250667	1 in 1001	1 in 708	1 in 1001	1 in 4
FANCE	Fanconi anemia, complementation group E	Autosomal recessive	Caucasian/European population	1 in 916	1 in 1145	<1 in 1,000,000	<1 in 1,000,000	1 in 4579	1 in 3664	1 in 4579	1 in 4
FANCF	Fanconi anemia, complementation group F	Autosomal recessive	Caucasian/European population	1 in 909	1 in 1074	<1 in 1,000,000	<1 in 1,000,000	1 in 4296	1 in 3636	1 in 4296	1 in 4
FANCG	Fanconi anemia, complementation group G	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 563 1 in 494 1 in 336 1 in 1278 1 in 1864	1 in 812 1 in 713 1 in 485 1 in 1844 1 in 2689	<1 in 1,000,000 <1 in 1,000,000 1 in 651465 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 939819 <1 in 1,000,000 <1 in 1,000,000	1 in 3247 1 in 2851 1 in 1939 1 in 7375 1 in 10756	1 in 2252 1 in 1976 1 in 1344 1 in 5112 1 in 7456	1 in 3247 1 in 2851 1 in 1939 1 in 7375 1 in 10756	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FANCI	Fanconi anemia, complementation group I	Autosomal recessive	Caucasian/European population	1 in 557	1 in 684	<1 in 1,000,000	<1 in 1,000,000	1 in 2736	1 in 2228	1 in 2736	1 in 4
FANCL	Fanconi anemia, complementation group L	Autosomal recessive	Caucasian/European population	1 in 102	1 in 130	1 in 53063	1 in 67658	1 in 520	1 in 408	1 in 520	1 in 4
FANCM	Spermatogenic failure 28	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FAR1	Peroxisomal fatty acyl-CoA reductase 1 disorder	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FARS2	Combined oxidative phosphorylation deficiency 14; Spastic paraplegia, type 77, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
FASTKD2	Combined oxidative phosphorylation deficiency 44	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FAT4	Hennekam lymphangiectasia-lymphedema syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FBLN5	Cutis laxa, autosomal recessive, type 1A	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
FBP1	Fructose-1,6-bisphosphatase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
FBXL4	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	Autosomal recessive	Caucasian/European population	1 in 913	Reduced	Reduced	Reduced	Reduced	1 in 3652	Reduced	1 in 4
FBXO7	Parkinson disease, type 15, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
FCGR3A	Immunodeficiency 20	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FCN3	Immunodeficiency due to ficolin 3 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FDXR	Auditory neuropathy and optic atrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FECH	Protoporphyria, erythropoietic, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 728	<1 in 1,000,000	<1 in 1,000,000	<1 in 2910	<1 in 2000	<1 in 2910	1 in 4
FERMT1	Kindler syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1444	<1 in 1,000,000	<1 in 1,000,000	<1 in 5776	<1 in 2000	<1 in 5776	1 in 4
FERMT3	Leukocyte adhesion deficiency, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
FEZF1	Hypogonadotropic hypogonadism type 22, with or without anosmia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FGA	Afibrinogenemia, congenital	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
FGB	Congenital afibrinogenemia	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
FGD1	Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16	X-linked	General African/African American East Asian South Asian Latino	1 in 500000 N/A N/A N/A N/A	1 in 937,499 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
FGD4	Charcot-Marie-Tooth disease, type 4H	Autosomal recessive	General population	≤1 in 500	<1 in 917	<1 in 1,000,000	<1 in 1,000,000	<1 in 3667	<1 in 2000	<1 in 3667	1 in 4
FGF16	Metacarpal 4-5 fusion	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
FGF23	Tumoral calcinosis, hyperphosphatemic, familial, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
FGF3	Deafness, congenital with inner ear agenesis, microtia, and microdontia	Autosomal recessive	General population	≤1 in 500	<1 in 938	<1 in 1,000,000	<1 in 1,000,000	<1 in 3750	<1 in 2000	<1 in 3750	1 in 4
FGF5	Trichomegaly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FGG	Afibrinogenemia, congenital; Hypofibrinogenemia, congenital	Autosomal recessive	General population	≤1 in 500	<1 in 539	<1 in 1,000,000	<1 in 1,000,000	<1 in 2156	<1 in 2000	<1 in 2156	1 in 4
FH	Fumarase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 252 1 in 561 N/A 1 in 3511 1 in 801	1 in 1,218 1 in 2720 N/A 1 in 17023 1 in 3884	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 4872 1 in 10880 N/A 1 in 68092 1 in 15535	1 in 1008 1 in 2244 N/A 1 in 14044 1 in 3204	1 in 4872 1 in 10880 N/A 1 in 68092 1 in 15535	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FHL1	Emery-Dreifuss muscular dystrophy, type 6, X-linked	X-linked	General population	1 in 88496	1 in 156529	1 in 626114	-	-	1 in 4	-	-
FIBP	Thauvin-Robinet-Faivre syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FIG4	Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1131	<1 in 1,000,000	<1 in 1,000,000	<1 in 4526	<1 in 2000	<1 in 4526	1 in 4
FKBP10	Bruck syndrome 1	Autosomal recessive	Caucasian/European population	1 in 1025	1 in 2142	<1 in 1,000,000	<1 in 1,000,000	1 in 8568	1 in 4100	1 in 8568	1 in 4
FKBP14	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FKRP	Muscular dystrophy-dystroglycanopathy, type 5A (Walker-Warburg syndrome); Type 5B; Type 5C (limb-girdle muscular dystrophy, type 9 [LGMDR9])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 176 1 in 452 1 in 196 1 in 2190 1 in 239	1 in 310 1 in 799 1 in 346 1 in 3869 1 in 422	1 in 218357 <1 in 1,000,000 1 in 271473 <1 in 1,000,000 1 in 403655	1 in 384813 <1 in 1,000,000 1 in 479602 <1 in 1,000,000 1 in 713124	1 in 1241 1 in 3194 1 in 1385 1 in 15476 1 in 1689	1 in 704 1 in 1808 1 in 784 1 in 8760 1 in 956	1 in 1241 1 in 3194 1 in 1385 1 in 15476 1 in 1689	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FKTN	Muscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,023 1 in 736 1 in 288 1 in 854 1 in 382 1 in 131	1 in 5,841 1 in 4206 1 in 1646 1 in 4880 1 in 2183 1 in 377	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 193489	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 569086	1 in 23364 1 in 16823 1 in 6583 1 in 19520 1 in 8731 1 in 1509	1 in 4092 1 in 2944 1 in 1152 1 in 3416 1 in 1528 1 in 513	1 in 23364 1 in 16823 1 in 6583 1 in 19520 1 in 8731 1 in 1509	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FLAD1	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FLG	Ichthyosis vulgaris	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FLI1	Bleeding disorder, platelet-type, type 21	Autosomal recessive*	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
FLNA	FLNA-related disorders	X-linked	General population	≤1 in 500	<1 in 1261905	<1 in 1,000,000	-	-	1 in 4	-	-
FLNB	Spondylocarpotarsal synostosis syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 2721	<1 in 1,000,000	<1 in 1,000,000	<1 in 10882	<1 in 2000	<1 in 10882	1 in 4
FLVCR1	Posterior column ataxia-retinitis pigmentosa syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 589	<1 in 1,000,000	<1 in 1,000,000	<1 in 2355	<1 in 2000	<1 in 2355	1 in 4
FLVCR2	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
FMN2	Mental retardation, autosomal recessive, type 47	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FMO3	Trimethylaminuria	Autosomal recessive	General population	≤1 in 500	<1 in 1416	<1 in 1,000,000	<1 in 1,000,000	<1 in 5665	<1 in 2000	<1 in 5665	1 in 4
FMR1	Fragile X syndrome	X-linked	General African/African American East Asian South Asian Latino Ashkenazi Jewish	>1 in 368 1 in 268 <1 in 500 1 in 172 1 in 206 1 in 84	<1 in 37,000 1 in 26800 1 in 222000 1 in 17200 1 in 20600 1 in 8400	1 in 146972 1 in 107200 1 in 888000 1 in 68800 1 in 82400 1 in 33600	- - - - - -	- - - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - - -	- - - - - -
FOLR1	Neurodegeneration due to cerebral folate transport deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
FOXE1	Bamforth-Lazarus syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FOXE3	Anterior segment dysgenesis, type 2, multiple subtypes	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
FOXI1	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FOXN1	T-cell immunodeficiency, congenital alopecia and nail dystrophy	Autosomal recessive	Caucasian/European population	1 in 4349	1 in 4832	<1 in 1,000,000	<1 in 1,000,000	1 in 19328	1 in 17396	1 in 19328	1 in 4
FOXO1	Rhabdomyosarcoma 2 (alveolar)	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FOXP3	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	X-linked	General population	≤1 in 500	<1 in 714286	<1 in 1,000,000	-	-	1 in 4	-	-
FOXRED1	Mitochondrial complex I deficiency, nuclear type 19	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 439 1 in 482 1 in 180 1 in 145 1 in 2646	1 in 822 1 in 904 1 in 338 1 in 272 1 in 4961	<1 in 1,000,000 <1 in 1,000,000 1 in 243000 1 in 157688 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 455625 1 in 295664 <1 in 1,000,000	1 in 3289 1 in 3615 1 in 1350 1 in 1088 1 in 19845	1 in 1756 1 in 1928 1 in 720 1 in 580 1 in 10584	1 in 3289 1 in 3615 1 in 1350 1 in 1088 1 in 19845	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FRAS1	Fraser syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 300 1 in 111 1 in 156 1 in 174 1 in 259	1 in 576 1 in 213 1 in 300 1 in 335 1 in 498	1 in 691200 1 in 94777 1 in 187200 1 in 232892 1 in 516008	<1 in 1,000,000 1 in 182263 1 in 360000 1 in 447870 1 in 992322	1 in 2304 1 in 854 1 in 1200 1 in 1338 1 in 1992	1 in 1200 1 in 444 1 in 624 1 in 696 1 in 1036	1 in 2304 1 in 854 1 in 1200 1 in 1338 1 in 1992	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FREM1	Manitoba oculotrichoanal syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 688	<1 in 1,000,000	<1 in 1,000,000	<1 in 2751	<1 in 2000	<1 in 2751	1 in 4
FREM2	Fraser syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 115	1 in 144	1 in 66010	1 in 82369	1 in 574	1 in 460	1 in 574	1 in 4
FRMD7	Nystagmus 1, congenital, X-linked	X-linked	General population	≤1 in 500	<1 in 1062500	<1 in 1,000,000	-	-	1 in 4	-	-
FRMPD4	Mental retardation, X-linked, type 104	X-linked	General population	≤1 in 500	<1 in 625000	<1 in 1,000,000	-	-	1 in 4	-	-
FRRS1L	Epileptic encephalopathy, early infantile, 37	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FSHB	Hypogonadotropic hypogonadism, type 24, without anosmia	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
FSHR	Ovarian dysgenesis 1	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
FTCD	Glutamate formiminotransferase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 355 N/A N/A N/A N/A	1 in 591 N/A N/A N/A N/A	1 in 839220 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2364 N/A N/A N/A N/A	1 in 1420 N/A N/A N/A N/A	1 in 2364 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FTL	L-ferritin deficiency	Autosomal recessive*	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
FTO	Growth retardation, developmental delay, facial dysmorphism	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
FTSJ1	Mental retardation, X-linked 44	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
FUCA1	Fucosidosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,149 1 in 1233 1 in 2875 1 in 2554 1 in 2032	1 in 4,880 1 in 5240 1 in 12219 1 in 10855 1 in 8636	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 19520 1 in 20961 1 in 48875 1 in 43418 1 in 34544	1 in 4596 1 in 4932 1 in 11500 1 in 10216 1 in 8128	1 in 19520 1 in 20961 1 in 48875 1 in 43418 1 in 34544	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
FUT8	Congenital disorder of glycosylation with defective fucosylation, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
FXN	Friedreich ataxia	Autosomal recessive	Caucasian/European population	1 in 85	1 in 8401	<1 in 1,000,000	<1 in 1,000,000	1 in 33604	1 in 340	1 in 33604	1 in 4
FYB1	Thrombocytopenia 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
FYCO1	Cataract 18, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
FZD6	Nail disorder, nonsyndromic congenital, type 10 (claw-shaped nails)	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
G6PC	Glycogen storage disease, type 1A	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 212 1 in 830 1 in 116 1 in 5128 1 in 346 1 in 68	1 in 471 1 in 1852 1 in 259 1 in 11439 1 in 772 1 in 3366	1 in 399154 <1 in 1,000,000 1 in 120069 <1 in 1,000,000 <1 in 1,000,000 1 in 906357	1 in 888101 <1 in 1,000,000 1 in 267846 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1885 1 in 7406 1 in 1035 1 in 45758 1 in 3087 1 in 13464	1 in 847 1 in 3320 1 in 464 1 in 20512 1 in 1384 1 in 269	1 in 1885 1 in 7406 1 in 1035 1 in 45758 1 in 3087 1 in 13464	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
G6PC3	Dursun syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,170 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4666 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4666 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
G6PD	Hemolytic anemia, G6PD deficient (favism)	X-linked	General African/African American East Asian South Asian Latino	1 in 25 1 in 5 N/A N/A 1 in 19	<1 in 241 1 in 50 N/A N/A 1 in 190	1 in 964 1 in 200 N/A N/A 1 in 760	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GAA	Glycogen storage disease, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 159 1 in 60 1 in 63 1 in 133 1 in 95 1 in 67	1 in 1,577 1 in 600 1 in 630 1 in 1330 1 in 950 1 in 2193	<1 in 1,000,000 1 in 144000 1 in 158760 1 in 707560 1 in 361000 1 in 577128	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6309 1 in 2400 1 in 2520 1 in 5320 1 in 3800 1 in 8772	1 in 634 1 in 240 1 in 252 1 in 532 1 in 380 1 in 263	1 in 6309 1 in 2400 1 in 2520 1 in 5320 1 in 3800 1 in 8772	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALC	Krabbe disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 67 1 in 119 1 in 40 1 in 35 1 in 181	1 in 120 1 in 215 1 in 72 1 in 63 1 in 327	1 in 32257 1 in 102441 1 in 11574 1 in 8862 1 in 236994	1 in 57948 1 in 185266 1 in 20933 1 in 16026 1 in 428607	1 in 481 1 in 861 1 in 289 1 in 253 1 in 1309	1 in 268 1 in 476 1 in 160 1 in 140 1 in 724	1 in 481 1 in 861 1 in 289 1 in 253 1 in 1309	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALE	Galactose epimerase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,011 1 in 1217 1 in 369 1 in 2541 1 in 2624	1 in 9,381 1 in 5679 1 in 1722 1 in 11858 1 in 12245	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 37524 1 in 22717 1 in 6888 1 in 47432 1 in 48981	1 in 8044 1 in 4868 1 in 1476 1 in 10164 1 in 10496	1 in 37524 1 in 22717 1 in 6888 1 in 47432 1 in 48981	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALK1	Galactokinase deficiency with cataracts	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 747 1 in 388 1 in 723 1 in 400 1 in 663	1 in 1,091 1 in 567 1 in 1057 1 in 585 1 in 969	<1 in 1,000,000 1 in 880103 <1 in 1,000,000 1 in 935385 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4365 1 in 2268 1 in 4227 1 in 2338 1 in 3876	1 in 2988 1 in 1552 1 in 2892 1 in 1600 1 in 2652	1 in 4365 1 in 2268 1 in 4227 1 in 2338 1 in 3876	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALNS	Mucopolysaccharidosis, type 4A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 311 1 in 317 1 in 263 1 in 317 1 in 548	1 in 657 1 in 671 1 in 557 1 in 671 1 in 1160	1 in 817893 1 in 851201 1 in 585902 1 in 851201 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2630 1 in 2685 1 in 2228 1 in 2685 1 in 4642	1 in 1244 1 in 1268 1 in 1052 1 in 1268 1 in 2192	1 in 2630 1 in 2685 1 in 2228 1 in 2685 1 in 4642	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GALNT3	Tumoral calcinosis, hyperphosphatemic, familial, type 1	Autosomal recessive	General population	1 in 500	1 in 3744	<1 in 1,000,000	<1 in 1,000,000	1 in 14974	1 in 2000	1 in 14974	1 in 4
GALT	Galactosemia	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 102 1 in 94 1 in 208 1 in 342 1 in 219 1 in 145	1 in 2,021 1 in 1880 1 in 4160 1 in 6840 1 in 4380 1 in 176	1 in 824219 1 in 706880 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 98901	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 123626	1 in 8082 1 in 7520 1 in 16640 1 in 27360 1 in 17520 1 in 703	1 in 408 1 in 376 1 in 832 1 in 1368 1 in 876 1 in 563	1 in 8082 1 in 7520 1 in 16640 1 in 27360 1 in 17520 1 in 703	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GAMT	Cerebral creatine deficiency syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 435 1 in 545 1 in 1150 1 in 2601 1 in 4223	1 in 815 1 in 1022 1 in 2156 1 in 4877 1 in 7918	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3259 1 in 4088 1 in 8625 1 in 19508 1 in 31673	1 in 1740 1 in 2180 1 in 4600 1 in 10404 1 in 16892	1 in 3259 1 in 4088 1 in 8625 1 in 19508 1 in 31673	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GAN	Giant axonal neuropathy, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
GAS8	Ciliary dyskinesia, primary, 33	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GATA1	Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia with beta-thalassemia, X-linked; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	X-linked	General population	≤1 in 500	<1 in 964286	<1 in 1,000,000	-	-	1 in 4	-	-
GATM	Cerebral creatine deficiency syndrome, type 3	Autosomal recessive	Caucasian/European population	1 in 6747	1 in 13493	<1 in 1,000,000	<1 in 1,000,000	1 in 53972	1 in 26988	1 in 53972	1 in 4
GBA	Gaucher disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 105 1 in 35 1 in 220 N/A 1 in 120 1 in 16	1 in 744 1 in 250 1 in 1571 N/A 1 in 857 1 in 284	1 in 312420 1 in 35000 <1 in 1,000,000 N/A 1 in 411429 1 in 17465	<1 in 1,000,000 1 in 250000 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 323417	1 in 2975 1 in 1000 1 in 6286 N/A 1 in 3429 1 in 1137	1 in 420 1 in 140 1 in 880 N/A 1 in 480 1 in 61	1 in 2975 1 in 1000 1 in 6286 N/A 1 in 3429 1 in 1137	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GBA2	Spastic paraplegia 46, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GBE1	Glycogen storage disease, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 192 1 in 523 1 in 1282 1 in 417 1 in 222 1 in 62	1 in 446 1 in 1219 1 in 2987 1 in 972 1 in 517 1 in 3041	1 in 342584 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 459372 1 in 739644	1 in 795925 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1784 1 in 4875 1 in 11949 1 in 3887 1 in 2069 1 in 12163	1 in 768 1 in 2092 1 in 5128 1 in 1668 1 in 888 1 in 243	1 in 1784 1 in 4875 1 in 11949 1 in 3887 1 in 2069 1 in 12163	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GCDH	Glutaricaciduria, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 100 1 in 93 1 in 204 1 in 261 1 in 271	1 in 1,981 1 in 1860 1 in 4080 1 in 5220 1 in 5420	1 in 792400 1 in 691920 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7924 1 in 7440 1 in 16320 1 in 20880 1 in 21680	1 in 400 1 in 372 1 in 816 1 in 1044 1 in 1084	1 in 7924 1 in 7440 1 in 16320 1 in 20880 1 in 21680	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GCH1	Hyperphenylalaninemia, BH4-deficient, type B	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 436 N/A N/A N/A N/A	1 in 436788 N/A N/A N/A N/A	1 in 759324 N/A N/A N/A N/A	1 in 1743 N/A N/A N/A N/A	1 in 1003 N/A N/A N/A N/A	1 in 1743 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GCK	Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive*	General population	≤1 in 500	<1 in 1666	<1 in 1,000,000	<1 in 1,000,000	<1 in 6664	<1 in 2000	<1 in 6664	1 in 4
GCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GCM2	Hypoparathyroidism, familial isolated (FIH) 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GCNT2	Cataract 13, with adult i phenotype	Autosomal recessive	General population	≤1 in 500	<1 in 572	<1 in 1,000,000	<1 in 1,000,000	<1 in 2287	<1 in 2000	<1 in 2287	1 in 4
GCSH	?Glycine encephalopathy	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GDAP1	Charcot-Marie-Tooth disease, recessive intermediate, type A	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 130 N/A N/A N/A N/A	1 in 298 N/A N/A N/A N/A	1 in 154804 N/A N/A N/A N/A	1 in 354501 N/A N/A N/A N/A	1 in 1191 N/A N/A N/A N/A	1 in 520 N/A N/A N/A N/A	1 in 1191 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GDF1	Right atrial isomerism (Ivemark syndrome)	Autosomal recessive	General population	≤1 in 500	<1 in 723	<1 in 1,000,000	<1 in 1,000,000	<1 in 2890	<1 in 2000	<1 in 2890	1 in 4
GDF5	Chondrodysplasia, Grebe type	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GDF6	Leber congenital amaurosis 17	Autosomal recessive	General population	≤1 in 500	<1 in 572	<1 in 1,000,000	<1 in 1,000,000	<1 in 2287	<1 in 2000	<1 in 2287	1 in 4
GDI1	Mental retardation, X-linked, type 41	X-linked	General population	1 in 45001	1 in 101251	1 in 405004	-	-	1 in 4	-	-
GEMIN4	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	Autosomal recessive	General population	≤1 in 500	<1 in 715	<1 in 1,000,000	<1 in 1,000,000	<1 in 2858	<1 in 2000	<1 in 2858	1 in 4
GFM1	Combined oxidative phosphorylation deficiency, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 480 1 in 515 1 in 1113 1 in 769 1 in 1318	1 in 731 1 in 785 1 in 1696 1 in 1172 1 in 2008	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2924 1 in 3139 1 in 6784 1 in 4687 1 in 8034	1 in 1920 1 in 2060 1 in 4452 1 in 3076 1 in 5272	1 in 2924 1 in 3139 1 in 6784 1 in 4687 1 in 8034	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GFPT1	Myasthenia, congenital, type 12, with tubular aggregates	Autosomal recessive	Caucasian/European population	1 in 192	1 in 243	1 in 186573	1 in 236066	1 in 972	1 in 768	1 in 972	1 in 4
GGCX	Vitamin K-dependent clotting factors, combined deficiency of, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
GGT1	Glutathioninuria	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GH1	Growth hormone deficiency, isolated, type 1A; Kowarski syndrome	Autosomal recessive	General population	1 in 224	1 in 597	1 in 535769	<1 in 1,000,000	1 in 2387	1 in 898	1 in 2387	1 in 4
GHR	Laron dwarfism	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GHRHR	Growth hormone deficiency, isolated, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 50 1 in 50 N/A N/A 1 in 50	1 in 83 1 in 83 N/A N/A 1 in 83	1 in 16533 1 in 16667 N/A N/A 1 in 16667	1 in 27335 1 in 27778 N/A N/A 1 in 27778	1 in 331 1 in 333 N/A N/A 1 in 333	1 in 200 1 in 200 N/A N/A 1 in 200	1 in 331 1 in 333 N/A N/A 1 in 333	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GHSR	Growth hormone deficiency, isolated partial	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
GINS1	Immunodeficiency 55	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GIPC3	Deafness, autosomal recessive, type 15	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
GJA1	Craniometaphyseal dysplasia, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1307	<1 in 1,000,000	<1 in 1,000,000	<1 in 5230	<1 in 2000	<1 in 5230	1 in 4
GJB1	Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1	X-linked	General African/African American East Asian South Asian Latino	1 in 15,161 N/A N/A N/A N/A	1 in 44,254 N/A N/A N/A N/A	1 in 177017 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GJB2	Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6	Autosomal recessive; Digenic inheritance (GJB6 gene)	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 40 1 in 37 N/A 1 in 58 1 in 100 1 in 21	1 in 489 1 in 463 N/A 1 in 725 1 in 1250 1 in 2100	1 in 78160 1 in 68450 N/A 1 in 168200 1 in 500000 1 in 176400	1 in 954529 1 in 855625 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1954 1 in 1850 N/A 1 in 2900 1 in 5000 1 in 8400	1 in 160 1 in 148 N/A 1 in 232 1 in 400 1 in 84	1 in 1954 1 in 1850 N/A 1 in 2900 1 in 5000 1 in 8400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GJB6	Deafness, autosomal recessive, type 1B; Deafness, digenic GJB2/GJB6	Autosomal recessive; Digenic inheritance (GJB2 gene)	Caucasian/European African/African American East Asian South Asian Latino	1 in 421 1 in 2161 1 in 214 1 in 1531 1 in 1626	1 in 42,000 1 in 216100 1 in 21400 1 in 153100 1 in 162600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 168004 1 in 864400 1 in 85600 1 in 612400 1 in 650400	1 in 1684 1 in 8644 1 in 856 1 in 6124 1 in 6504	1 in 168004 1 in 864400 1 in 85600 1 in 612400 1 in 650400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GJC2	Spastic paraplegia, type 44, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 682	<1 in 1,000,000	<1 in 1,000,000	<1 in 2729	<1 in 2000	<1 in 2729	1 in 4
GK	Glycerol kinase deficiency	X-linked	General population	≤1 in 500	<1 in 1250000	<1 in 1,000,000	-	-	1 in 4	-	-
GLA	Fabry disease	X-linked	General African/African American East Asian South Asian Latino	1 in 35,031 1 in 50000 N/A N/A 1 in 50000	<1 in 217,000 1 in 309593 N/A N/A 1 in 309593	1 in 867596 <1 in 1,000,000 N/A N/A <1 in 1,000,000	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GLB1	GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 277 1 in 356 1 in 305 1 in 285 1 in 431	1 in 1,320 1 in 1701 1 in 1457 1 in 1362 1 in 2059	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5279 1 in 6804 1 in 5829 1 in 5447 1 in 8237	1 in 1108 1 in 1424 1 in 1220 1 in 1140 1 in 1724	1 in 5279 1 in 6804 1 in 5829 1 in 5447 1 in 8237	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GLDC	Glycine encephalopathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 255 1 in 515 1 in 137 1 in 570 1 in 323	1 in 509 1 in 1030 1 in 274 1 in 1140 1 in 646	1 in 519180 <1 in 1,000,000 1 in 150152 <1 in 1,000,000 1 in 834632	<1 in 1,000,000 <1 in 1,000,000 1 in 300304 <1 in 1,000,000 <1 in 1,000,000	1 in 2036 1 in 4120 1 in 1096 1 in 4560 1 in 2584	1 in 1020 1 in 2060 1 in 548 1 in 2280 1 in 1292	1 in 2036 1 in 4120 1 in 1096 1 in 4560 1 in 2584	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GLDN	Lethal congenital contracture syndrome 11	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GLE1	Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 453 1 in 1148 1 in 2302 1 in 669 1 in 1201	1 in 582 1 in 1476 1 in 2960 1 in 860 1 in 1544	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2329 1 in 5904 1 in 11839 1 in 3441 1 in 6177	1 in 1812 1 in 4592 1 in 9208 1 in 2676 1 in 4804	1 in 2329 1 in 5904 1 in 11839 1 in 3441 1 in 6177	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GLIS2	Nephronophthisis, type 7	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
GLRA1	Hyperekplexia, type 1	Autosomal recessive*	General population	≤1 in 500	<1 in 1075	<1 in 1,000,000	<1 in 1,000,000	<1 in 4300	<1 in 2000	<1 in 4300	1 in 4
GLRB	Hyperekplexia, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 572	<1 in 1,000,000	<1 in 1,000,000	<1 in 2287	<1 in 2000	<1 in 2287	1 in 4
GLRX5	Anemia, sideroblastic, type 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia	Autosomal recessive	General population	≤1 in 500	<1 in 584	<1 in 1,000,000	<1 in 1,000,000	<1 in 2335	<1 in 2000	<1 in 2335	1 in 4
GLUL	Glutamine deficiency, congenital	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
GLYCTK	D-glyceric aciduria	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GM2A	GM2-gangliosidosis, AB variant	Autosomal recessive	General population	≤1 in 500	<1 in 2249	<1 in 1,000,000	<1 in 1,000,000	<1 in 8995	<1 in 2000	<1 in 8995	1 in 4
GMPPA	Alacrima, achalasia, and mental retardation syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GMPPB	Muscular dystrophy-dystroglycanopathy 14	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GNAT1	Night blindness, congenital stationary, type 1G	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
GNAT2	Achromatopsia, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
GNB3	Night blindness, congenital stationary, type 1H	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GNB5	Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
GNE	Inclusion body myopathy, type 2 (Nonaka myopathy)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 279 1 in 379 1 in 271 1 in 36 1 in 765 <1 in 500	1 in 1,593 1 in 2171 1 in 1552 1 in 206 1 in 4381 1 in 5470	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 29690 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 170044 <1 in 1,000,000 <1 in 1,000,000	1 in 6373 1 in 8683 1 in 6208 1 in 825 1 in 17525 1 in 21880	1 in 1116 1 in 1516 1 in 1084 1 in 144 1 in 3060 1 in 6564	1 in 6373 1 in 8683 1 in 6208 1 in 825 1 in 17525 1 in 21880	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNMT	Glycine N-methyltransferase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 24,951 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 99804 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 99804 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNPAT	Rhizomelic chondrodysplasia punctata, type 2	Autosomal recessive	Caucasian/European population	1 in 3136	1 in 3763	<1 in 1,000,000	<1 in 1,000,000	1 in 15052	1 in 12544	1 in 15052	1 in 4
GNPTAB	Mucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/beta	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 176 1 in 328 1 in 368 1 in 321 1 in 287	1 in 17,522 1 in 32800 1 in 36800 1 in 32100 1 in 28700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 70090 1 in 131200 1 in 147200 1 in 128400 1 in 114800	1 in 705 1 in 1312 1 in 1472 1 in 1284 1 in 1148	1 in 70090 1 in 131200 1 in 147200 1 in 128400 1 in 114800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNPTG	Mucolipidosis III gamma	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 684 1 in 486 1 in 2133 1 in 1398 1 in 735	1 in 2,232 1 in 1588 1 in 6968 1 in 4567 1 in 2401	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8929 1 in 6350 1 in 27871 1 in 18267 1 in 9604	1 in 2736 1 in 1944 1 in 8532 1 in 5592 1 in 2940	1 in 8929 1 in 6350 1 in 27871 1 in 18267 1 in 9604	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNRHR	Hypogonadotropic hypogonadism, type 7, without anosmia	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 2,097 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 8387 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 8387 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GNS	Mucopolysaccharidosis, type 3D (Sanfilippo syndrome D)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,731 1 in 793 1 in 4588 1 in 4145 1 in 4197	1 in 273,001 1 in 79300 1 in 458800 1 in 414500 1 in 419700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1092004 1 in 317200 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10924 1 in 3172 1 in 18352 1 in 16580 1 in 16788	1 in 1092004 1 in 317200 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GORAB	Geroderma osteodysplasticum	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
GOSR2	Epilepsy, progressive myoclonic, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
GOT2	Epileptic encephalopathy, early infantile, 82	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GP1BA	Bernard-Soulier syndrome, type A1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,677 1 in 2035 1 in 1725 N/A 1 in 4198	1 in 3,074 1 in 3731 1 in 3163 N/A 1 in 7696	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 12295 1 in 14923 1 in 12650 N/A 1 in 30785	1 in 6708 1 in 8140 1 in 6900 N/A 1 in 16792	1 in 12295 1 in 14923 1 in 12650 N/A 1 in 30785	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GP1BB	Bernard-Soulier syndrome, type B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 531 1 in 556 N/A N/A 1 in 556	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2125 1 in 2222 N/A N/A 1 in 2222	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 2125 1 in 2222 N/A N/A 1 in 2222	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GP6	Bleeding disorder, platelet-type, type 11	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
GP9	Bernard-Soulier syndrome, type C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 451 1 in 500 N/A 1 in 848 1 in 500	1 in 1,576 1 in 1750 N/A 1 in 2968 1 in 1750	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 6304 1 in 7000 N/A 1 in 11872 1 in 7000	1 in 1804 1 in 2000 N/A 1 in 3392 1 in 2000	1 in 6304 1 in 7000 N/A 1 in 11872 1 in 7000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GPAA1	Glycosylphosphatidylinositol biosynthesis defect 15	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GPC3	Simpson-Golabi-Behmel syndrome, type 1	X-linked	General population	≤1 in 500	<1 in 823530	<1 in 1,000,000	-	-	1 in 4	-	-
GPC6	Omodysplasia, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
GPD1	Hypertriglyceridemia, transient infantile	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
GPHN	Molybdenum cofactor deficiency C	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
GPI	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
GPIHBP1	Hyperlipoproteinemia, type 1D	Autosomal recessive	General population	≤1 in 500	<1 in 1666	<1 in 1,000,000	<1 in 1,000,000	<1 in 6664	<1 in 2000	<1 in 6664	1 in 4
GPR143	Ocular albinism, type 1 (Nettleship-Falls type)	X-linked	General African/African American East Asian South Asian Latino	1 in 42,858 N/A N/A N/A N/A	<1 in 48,000 N/A N/A N/A N/A	1 in 192079 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
GPR179	Night blindness, congenital stationary (complete), type 1E, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 945	<1 in 1,000,000	<1 in 1,000,000	<1 in 3778	<1 in 2000	<1 in 3778	1 in 4
GPR68	Amelogenesis imperfecta, type 2A6 (hypomaturation type)	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
GPSM2	Chudley-McCullough syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
GPT2	Mental retardation, autosomal recessive 49	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
GRHL2	Ectodermal dysplasia/short stature syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
GRHPR	Hyperoxaluria, primary, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 433 1 in 605 1 in 681 1 in 327 1 in 1881	1 in 43,201 1 in 60500 1 in 68100 1 in 32700 1 in 188100	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 172804 1 in 242000 1 in 272400 1 in 130800 1 in 752400	1 in 1732 1 in 2420 1 in 2724 1 in 1308 1 in 7524	1 in 172804 1 in 242000 1 in 272400 1 in 130800 1 in 752400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GRIA3	Mental retardation, X-linked, type 94	X-linked	General population	1 in 500000	1 in 600000	<1 in 1,000,000	-	-	1 in 4	-	-
GRID2	Spinocerebellar ataxia, autosomal recessive, type 18	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GRIK2	Mental retardation, autosomal recessive, type, 6	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
GRIN1	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 728	<1 in 1,000,000	<1 in 1,000,000	<1 in 2910	<1 in 2000	<1 in 2910	1 in 4
GRIP1	Fraser syndrome 3	Autosomal recessive	Caucasian/European population	1 in 333	1 in 554	1 in 738372	<1 in 1,000,000	1 in 2217	1 in 1332	1 in 2217	1 in 4
GRK1	Oguchi disease-2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GRM1	Spinocerebellar ataxia, autosomal recessive, type 13	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
GRM6	Night blindness, congenital stationary (complete), type 1B, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
GRN	Ceroid lipofuscinosis, neuronal, 11	Autosomal recessive	General population	≤1 in 500	<1 in 967	<1 in 1,000,000	<1 in 1,000,000	<1 in 3867	<1 in 2000	<1 in 3867	1 in 4
GRXCR1	Deafness, autosomal recessive, type 25	Autosomal recessive	General population	≤1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
GSC	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
GSS	Glutathione synthetase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 992 1 in 618 1 in 297 1 in 1703 1 in 49	1 in 2,974 1 in 1854 1 in 891 1 in 5109 1 in 147	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 28812	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 86436	1 in 11896 1 in 7416 1 in 3564 1 in 20436 1 in 588	1 in 3968 1 in 2472 1 in 1188 1 in 6812 1 in 196	1 in 11896 1 in 7416 1 in 3564 1 in 20436 1 in 588	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GTF2E2	Trichothiodystrophy 6, nonphotosensitive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GTF2H5	Trichothiodystrophy, type 3, photosensitive	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
GTPBP2	Jaberi-Elahi syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GTPBP3	Combined oxidative phosphorylation deficiency 23	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GUCY1A1	Moyamoya 6 with achalasia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GUCY2C	Meconium ileus	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
GUCY2D	Leber congenital amaurosis, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 248 N/A N/A N/A N/A	1 in 305 N/A N/A N/A N/A	1 in 302560 N/A N/A N/A N/A	1 in 372100 N/A N/A N/A N/A	1 in 1220 N/A N/A N/A N/A	1 in 992 N/A N/A N/A N/A	1 in 1220 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GUF1	?Epileptic encephalopathy, early infantile, 40	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
GUSB	Mucopolysaccharidosis, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 552 1 in 685 1 in 1760 1 in 914 1 in 463	1 in 1,6531 1 in 20550 1 in 52800 1 in 27420 1 in 13890	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 66124 1 in 82200 1 in 211200 1 in 109680 1 in 55560	1 in 2208 1 in 2740 1 in 7040 1 in 3656 1 in 1852	1 in 66124 1 in 82200 1 in 211200 1 in 109680 1 in 55560	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
GYG1	Polyglucosan body myopathy, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
GYS1	Glycogen storage disease, type 0, muscle	Autosomal recessive	General population	≤1 in 500	<1 in 688	<1 in 1,000,000	<1 in 1,000,000	<1 in 2751	<1 in 2000	<1 in 2751	1 in 4
GYS2	Glycogen storage disease, type 0, liver	Autosomal recessive	General population	≤1 in 500	<1 in 808	<1 in 1,000,000	<1 in 1,000,000	<1 in 3232	<1 in 2000	<1 in 3232	1 in 4
GZF1	Joint laxity, short stature, and myopia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
H6PD	Cortisone reductase deficiency 1	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
HAAO	Vertebral, cardiac, renal, and limb defects syndrome 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures	Autosomal recessive	General population	≤1 in 500	<1 in 1143	<1 in 1,000,000	<1 in 1,000,000	<1 in 4571	<1 in 2000	<1 in 4571	1 in 4
HADH	3-hydroxyacyl-CoA dehydrogenase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 415 N/A N/A N/A N/A	1 in 622 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2486 N/A N/A N/A N/A	1 in 1659 N/A N/A N/A N/A	1 in 2486 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HADHA	Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 251 1 in 482 1 in 1006 1 in 733 1 in 407	1 in 833 1 in 1607 1 in 3353 1 in 2443 1 in 1357	1 in 834339 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3331 1 in 6427 1 in 13413 1 in 9773 1 in 5427	1 in 1002 1 in 1928 1 in 4024 1 in 2932 1 in 1628	1 in 3331 1 in 6427 1 in 13413 1 in 9773 1 in 5427	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HADHB	Mitochondrial trifunctional protein deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,379 1 in 827 1 in 742 1 in 1033 1 in 1095	1 in 3,008 1 in 1804 1 in 1619 1 in 2254 1 in 2389	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 12030 1 in 7217 1 in 6476 1 in 9015 1 in 9556	1 in 5516 1 in 3308 1 in 2968 1 in 4132 1 in 4380	1 in 12030 1 in 7217 1 in 6476 1 in 9015 1 in 9556	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HAL	[Histidinemia]	Autosomal recessive*	General population	1 in 72	Reduced	Reduced	Reduced	Reduced	1 in 288	Reduced	1 in 4
HAMP	Hemochromatosis, type 2B	Autosomal recessive	Caucasian/European population	1 in 8124	1 in 10832	<1 in 1,000,000	<1 in 1,000,000	1 in 43327	1 in 32496	1 in 43327	1 in 4
HARS1	Usher syndrome, type 3B	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
HAX1	Neutropenia, severe congenital, type 3, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 219 1 in 800 1 in 1263 1 in 5130 1 in 2798	1 in 306 1 in 1120 1 in 1768 1 in 7182 1 in 3917	1 in 267195 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 373584 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1222 1 in 4480 1 in 7073 1 in 28728 1 in 15669	1 in 874 1 in 3200 1 in 5052 1 in 20520 1 in 11192	1 in 1222 1 in 4480 1 in 7073 1 in 28728 1 in 15669	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HBA1	Thalassemia, alpha-	Autosomal recessive	Caucasian/European African/African American Asian Latino Ashkenazi Jewish	1 in 30 1 in 30 1 in 20 N/A N/A	1 in 194 1 in 300 1 in 400 N/A N/A	1 in 23320 1 in 36000 1 in 32000 N/A N/A	1 in 151062 1 in 360000 1 in 640000 N/A N/A	1 in 777 1 in 1200 1 in 1600 N/A N/A	1 in 120 1 in 120 1 in 80 N/A N/A	1 in 777 1 in 1200 1 in 1600 N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HBA2	Thalassemia, alpha-	Autosomal recessive	Caucasian/European African/African American Asian Latino	1 in 30 1 in 30 1 in 20 N/A	1 in 194 1 in 300 1 in 400 N/A	1 in 23320 1 in 36000 1 in 32000 N/A	1 in 151062 1 in 360000 1 in 640000 N/A	1 in 777 1 in 1200 1 in 1600 N/A	1 in 120 1 in 120 1 in 80 N/A	1 in 777 1 in 1200 1 in 1600 N/A	1 in 4 1 in 4 1 in 4 1 in 4
HBB	HBB-related hemoglobinopathy	Autosomal recessive	Caucasian/European African/African American (Sickle cell anemia) East Asian (b-thalassemia) South Asian (b-thalassemia) Latino Ashkenazi Jewish	1 in 67 1 in 11 1 in 87 1 in 25 1 in 128 Varied	1 in 411 1 in 220 1 in 1020 1 in 500 1 in 1280 N/A	1 in 109711 1 in 9680 1 in 208080 1 in 50000 1 in 655360 N/A	1 in 677055 1 in 193600 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 N/A	1 in 1646 1 in 880 1 in 4080 1 in 2000 1 in 5120 N/A	1 in 267 1 in 44 1 in 204 1 in 100 1 in 512 N/A	1 in 1646 1 in 880 1 in 4080 1 in 2000 1 in 5120 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HCCS	Linear skin defects with multiple congenital anomalies, type 1	X-linked	General population	≤1 in 500	<1 in 750000	<1 in 1,000,000	-	-	1 in 4	-	-
HCFC1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
HDAC8	Cornelia de Lange syndrome 5	X-linked	General population	≤1 in 500	<1 in 765625	<1 in 1,000,000	-	-	1 in 4	-	-
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	Autosomal recessive	Caucasian/European population	1 in 240	Reduced	Reduced	Reduced	Reduced	1 in 960	Reduced	1 in 4
HEPACAM	Megalencephalic leukoencephalopathy with subcortical cysts 2A	Autosomal recessive	General population	≤1 in 500	<1 in 591	<1 in 1,000,000	<1 in 1,000,000	<1 in 2365	<1 in 2000	<1 in 2365	1 in 4
HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HERC2	Mental retardation, autosomal recessive, type 38	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
HES7	Spondylocostal dysostosis, type 4, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
HESX1	Growth hormone deficiency with pituitary anomalies	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
HEXA	Tay-Sachs disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 90 1 in 216 1 in 210 1 in 416 1 in 243 1 in 26	1 in 743 1 in 1800 1 in 1750 1 in 3467 1 in 2025 1 in 519	1 in 267360 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 53920	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2971 1 in 7200 1 in 7000 1 in 13867 1 in 8100 1 in 2077	1 in 360 1 in 864 1 in 840 1 in 1664 1 in 972 1 in 104	1 in 2971 1 in 7200 1 in 7000 1 in 13867 1 in 8100 1 in 2077	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HEXB	Sandhoff disease, infantile, juvenile, and adult forms	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 202 1 in 895 1 in 385 1 in 513 1 in 248	1 in 743 1 in 3305 1 in 1422 1 in 1894 1 in 916	1 in 600468 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 908367	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2973 1 in 13218 1 in 5686 1 in 7577 1 in 3663	1 in 808 1 in 3580 1 in 1540 1 in 2052 1 in 992	1 in 2973 1 in 13218 1 in 5686 1 in 7577 1 in 3663	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HFM1	Premature ovarian failure 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HGD	Alkaptonuria	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 1,708 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6834 N/A N/A N/A N/A	1 in 1000 N/A N/A N/A N/A	1 in 6834 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HGF	Deafness, autosomal recessive, type 39	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
HGSNAT	Mucopolysaccharidosis type 3C (Sanfilippo syndrome C)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 345 1 in 604 1 in 836 1 in 1483 1 in 922	1 in 809 1 in 1418 1 in 1963 1 in 3482 1 in 2165	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3235 1 in 5672 1 in 7851 1 in 13927 1 in 8659	1 in 1380 1 in 2416 1 in 3344 1 in 5932 1 in 3688	1 in 3235 1 in 5672 1 in 7851 1 in 13927 1 in 8659	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
HIKESHI	Leukodystrophy, hypomyelinating, 13	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HINT1	Neuromyotonia and axonal neuropathy, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 766	Reduced	Reduced	Reduced	Reduced	1 in 3064	Reduced	1 in 4
HJV	Hemochromatosis, type 2A	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 1,894 1 in 3456 1 in 2225 1 in 766 1 in 1865	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 7576 1 in 13824 1 in 8900 1 in 3064 1 in 7460	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HK1	Charcot-Marie-Tooth disease, type 4G	Autosomal recessive	General population	≤1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
HLCS	Holocarboxylase synthetase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 703 1 in 570 1 in 342 1 in 1099 1 in 706	1 in 2,185 1 in 1773 1 in 1064 1 in 3419 1 in 2196	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8740 1 in 7093 1 in 4256 1 in 13676 1 in 8786	1 in 2812 1 in 2280 1 in 1368 1 in 4396 1 in 2824	1 in 8740 1 in 7093 1 in 4256 1 in 13676 1 in 8786	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HMGCL	HMG-CoA lyase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 875 1 in 964 1 in 2253 1 in 1283 1 in 1123	1 in 2,623 1 in 2892 1 in 6759 1 in 3849 1 in 3369	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10492 1 in 11568 1 in 27036 1 in 15396 1 in 13476	1 in 3500 1 in 3856 1 in 9012 1 in 5132 1 in 4492	1 in 10492 1 in 11568 1 in 27036 1 in 15396 1 in 13476	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HMGCS2	HMG-CoA synthase-2 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
HMOX1	Heme oxygenase-1 deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HMX1	Oculoauricular syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HNMT	Mental retardation, autosomal recessive, type 51	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
HNRNPH2	Mental retardation, X-linked, syndromic, Bain type	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
HOGA1	Hyperoxaluria, primary, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 169 1 in 267 1 in 182 1 in 265 1 in 287 1 in 37	1 in 309 1 in 490 1 in 334 1 in 486 1 in 526 1 in 1233	1 in 208884 1 in 522786 1 in 242909 1 in 514983 1 in 604039 1 in 182533	1 in 381924 1 in 958441 1 in 445334 1 in 944136 <1 in 1,000,000 <1 in 1,000,000	1 in 1236 1 in 1958 1 in 1335 1 in 1943 1 in 2105 1 in 4933	1 in 676 1 in 1068 1 in 728 1 in 1060 1 in 1148 1 in 148	1 in 1236 1 in 1958 1 in 1335 1 in 1943 1 in 2105 1 in 4933	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HOXA1	Athabaskan brainstem dysgenesis syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
HOXB1	Facial paresis, hereditary congenital, 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HOXC13	Ectodermal dysplasia 9, hair/nail type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HPCA	Dystonia 2, torsion, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HPD	Tyrosinemia, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,453 1 in 5764 1 in 9196 1 in 1026 1 in 4064	1 in 5,518 1 in 12969 1 in 20691 1 in 2309 1 in 9144	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 22072 1 in 51876 1 in 82764 1 in 9234 1 in 36576	1 in 9812 1 in 23056 1 in 36784 1 in 4104 1 in 16256	1 in 22072 1 in 51876 1 in 82764 1 in 9234 1 in 36576	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HPGD	Hypertrophic osteoarthropathy, primary, type 1 (pachydermoperiostosis)	Autosomal recessive	General population	≤1 in 500	<1 in 3498	<1 in 1,000,000	<1 in 1,000,000	<1 in 13990	<1 in 2000	<1 in 13990	1 in 4
HPRT1	Lesch-Nyhan syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 145,204 N/A N/A N/A N/A	1 in 382,808 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
HPS1	Hermansky-Pudlak syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 493 1 in 906 1 in 2863 1 in 1539 1 in 999	1 in 1,448 1 in 2665 1 in 8421 1 in 4526 1 in 2938	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5792 1 in 10659 1 in 33682 1 in 18106 1 in 11753	1 in 1972 1 in 3624 1 in 11452 1 in 6156 1 in 3996	1 in 5792 1 in 10659 1 in 33682 1 in 18106 1 in 11753	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HPS3	Hermansky-Pudlak syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 491 1 in 799 1 in 219 1 in 393 1 in 3365 1 in 248	1 in 589 1 in 959 1 in 263 1 in 472 1 in 4038 1 in 24954	<1 in 1,000,000 <1 in 1,000,000 1 in 230213 1 in 741355 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 276255 1 in 889626 <1 in 1,000,000 <1 in 1,000,000	1 in 2356 1 in 3835 1 in 1051 1 in 1886 1 in 16152 1 in 99816	1 in 1964 1 in 3196 1 in 876 1 in 1572 1 in 13460 1 in 998	1 in 2356 1 in 3835 1 in 1051 1 in 1886 1 in 16152 1 in 99816	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HPS4	Hermansky-Pudlak syndrome 4	Autosomal recessive	Caucasian/European population	1 in 703	1 in 1756	<1 in 1,000,000	<1 in 1,000,000	1 in 7024	1 in 2812	1 in 7024	1 in 4
HPS5	Hermansky-Pudlak syndrome 5	Autosomal recessive	Caucasian/European population	1 in 89	1 in 210	1 in 74760	1 in 176400	1 in 840	1 in 356	1 in 840	1 in 4
HPS6	Hermansky-Pudlak syndrome 6	Autosomal recessive	Caucasian/European population	1 in 745	1 in 1043	<1 in 1,000,000	<1 in 1,000,000	1 in 4170	1 in 2980	1 in 4170	1 in 4
HPSE2	Urofacial syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
HR	Alopecia universalis; Atrichia with papular lesions	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
HSD11B2	Apparent mineralocorticoid excess	Autosomal recessive	General population	≤1 in 500	<1 in 1375	<1 in 1,000,000	<1 in 1,000,000	<1 in 5499	<1 in 2000	<1 in 5499	1 in 4
HSD17B10	HSD10 mitochondrial disease	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
HSD17B3	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 2,750 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 10993 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 10993 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HSD17B4	D-bifunctional protein deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 534 1 in 375 1 in 516 1 in 1282 1 in 1123	1 in 11,727 1 in 8250 1 in 11352 1 in 28204 1 in 24706	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 46908 1 in 33000 1 in 45408 1 in 112816 1 in 98824	1 in 2136 1 in 1500 1 in 2064 1 in 5128 1 in 4492	1 in 46908 1 in 33000 1 in 45408 1 in 112816 1 in 98824	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HSD3B2	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 862 1 in 2853 1 in 2258 1 in 1183 1 in 1151	1 in 1,831 1 in 6063 1 in 4798 1 in 2514 1 in 2446	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7323 1 in 24251 1 in 19193 1 in 10056 1 in 9784	1 in 3448 1 in 11412 1 in 9032 1 in 4732 1 in 4604	1 in 7323 1 in 24251 1 in 19193 1 in 10056 1 in 9784	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HSD3B7	Bile acid synthesis defect, congenital, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1375	<1 in 1,000,000	<1 in 1,000,000	<1 in 5499	<1 in 2000	<1 in 5499	1 in 4
HSPA9	Even-plus syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
HSPD1	Leukodystrophy, hypomyelinating, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,625 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6498 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 6498 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HTRA1	CARASIL syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 893	<1 in 1,000,000	<1 in 1,000,000	<1 in 3572	<1 in 2000	<1 in 3572	1 in 4
HTRA2	3-methylglutaconic aciduria, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
HTT	Lopes-Maciel-Rodan syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HUWE1	Mental retardation, X-linked syndromic, Turner type	X-linked	General population	1 in 50000	1 in 53846	1 in 215384	-	-	1 in 4	-	-
HYAL1	?Mucopolysaccharidosis, type 9	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,811 1 in 1708 1 in 2296 1 in 1691 1 in 2692	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 11244 1 in 6832 1 in 9184 1 in 6764 1 in 10768	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HYDIN	Ciliary dyskinesia, primary, 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
HYLS1	Hydrolethalus syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 522 1 in 1092 1 in 2959 1 in 2199 1 in 885	1 in 587 1 in 1229 1 in 3329 1 in 2474 1 in 996	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2349 1 in 4914 1 in 13316 1 in 9896 1 in 3983	1 in 2088 1 in 4368 1 in 11836 1 in 8796 1 in 3540	1 in 2349 1 in 4914 1 in 13316 1 in 9896 1 in 3983	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
HYOU1	?Immunodeficiency 59 and hypoglycemia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IARS1	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IBA57	Multiple mitochondrial dysfunctions syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ICOS	Immunodeficiency, common variable, 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IDH3B	Retinitis pigmentosa, type 46	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 999 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3996 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 3996 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IDS	Mucopolysaccharidosis, type 2	X-linked	Caucasian/European African/African American East Asian South Asian Latino	1 in 38,000 1 in 100000 1 in 24000 N/A 1 in 100000	1 in 90,827 1 in 239022 1 in 57365 N/A 1 in 239022	1 in 363307 1 in 956087 1 in 229461 N/A 1 in 956087	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
IDUA	Mucopolysaccharidosis type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 153 1 in 376 1 in 236 1 in 114 1 in 416	1 in 340 1 in 838 1 in 526 1 in 254 1 in 927	1 in 207844 <1 in 1,000,000 1 in 496301 1 in 115806 <1 in 1,000,000	1 in 461350 <1 in 1,000,000 <1 in 1,000,000 1 in 257984 <1 in 1,000,000	1 in 1358 1 in 3350 1 in 2103 1 in 1016 1 in 3707	1 in 612 1 in 1504 1 in 944 1 in 456 1 in 1664	1 in 1358 1 in 3350 1 in 2103 1 in 1016 1 in 3707	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IER3IP1	Microcephaly, epilepsy, and diabetes syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
IFNGR1	Immunodeficiency, type 27A, mycobacteriosis	Autosomal recessive	General population	≤1 in 500	<1 in 2249	<1 in 1,000,000	<1 in 1,000,000	<1 in 8995	<1 in 2000	<1 in 8995	1 in 4
IFNGR2	Immunodeficiency, type 28, mycobacteriosis	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
IFT122	Cranioectodermal dysplasia 1	Autosomal recessive	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
IFT140	Retinitis pigmentosa, type 80; Short-rib thoracic dysplasia 9 with or without polydactyly	Autosomal recessive	Caucasian/European population	1 in 381	1 in 533	1 in 812292	<1 in 1,000,000	1 in 2132	1 in 1524	1 in 2132	1 in 4
IFT172	Short-rib thoracic dysplasia 10 with or without polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IFT43	Short-rib thoracic dysplasia 18 with polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IFT52	Short-rib thoracic dysplasia 16 with or without polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IFT80	Short-rib thoracic dysplasia, type 2, with or without polydactyly	Autosomal recessive	General population	≤1 in 500	<1 in 917	<1 in 1,000,000	<1 in 1,000,000	<1 in 3667	<1 in 2000	<1 in 3667	1 in 4
IFT81	Short-rib thoracic dysplasia 19 with or without polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IGBP1	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
IGF1	Growth retardation with deafness and mental retardation due to IGF1 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
IGF1R	Insulin-like growth factor I, resistance to	Autosomal recessive*	General population	≤1 in 500	<1 in 569	<1 in 1,000,000	<1 in 1,000,000	<1 in 2274	<1 in 2000	<1 in 2274	1 in 4
IGFALS	Acid-labile subunit deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
IGFBP7	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IGHM	Agammaglobulinemia 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IGHMBP2	Charcot-Marie-Tooth disease, axonal, type 2S	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 4,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 15988 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 15988 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IGKC	Kappa light chain deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IGLL1	Agammaglobulinemia 2	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
IGSF1	Hypothyroidism, central, and testicular enlargement	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
IHH	Acrocapitofemoral dysplasia	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
IKBKB	Immunodeficiency 15	Autosomal recessive	Caucasian/European population	1 in 324	Reduced	Reduced	Reduced	Reduced	1 in 1296	Reduced	1 in 4
IKBKG	Immunodeficiency, type 33	X-linked	General population	≤1 in 500	<1 in 510870	<1 in 1,000,000	-	-	1 in 4	-	-
IL10RA	Inflammatory bowel disease, type 28, early onset, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
IL10RB	Inflammatory bowel disease, type 25, early onset, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
IL11RA	Craniosynostosis and dental anomalies	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
IL12B	Immunodeficiency, type 29, mycobacteriosis	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
IL12RB1	Immunodeficiency, type 30	Autosomal recessive	General population	≤1 in 500	<1 in 657	<1 in 1,000,000	<1 in 1,000,000	<1 in 2626	<1 in 2000	<1 in 2626	1 in 4
IL17RA	Immunodeficiency, type 51	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
IL17RC	Candidiasis, familial, 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IL1RAPL1	Mental retardation, X-linked, type 21/34	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 90,000 N/A N/A N/A N/A	1 in 359996 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
IL1RN	Sterile multifocal osteomyelitis with periostitis and pustulosis	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
IL21R	Immunodeficiency, type 56	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
IL2RA	Immunodeficiency, type 41 with lymphoproliferation and autoimmunity	Autosomal recessive	Caucasian/European population	1 in 11327	1 in 22653	<1 in 1,000,000	<1 in 1,000,000	1 in 90612	1 in 45308	1 in 90612	1 in 4
IL2RG	Severe combined immunodeficiency, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 33,334 N/A N/A N/A N/A	<1 in 84,000 N/A N/A N/A N/A	1 in 334228 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
IL36RN	Psoriasis, type 14, pustular	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type	Autosomal recessive	Caucasian/European population	1 in 522	1 in 783	<1 in 1,000,000	<1 in 1,000,000	1 in 3130	1 in 2088	1 in 3130	1 in 4
ILDR1	Deafness, autosomal recessive, type 42	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
IMPA1	Mental retardation, autosomal recessive 59	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
IMPG2	Retinitis pigmentosa, type 56	Autosomal recessive	General population	≤1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
INPP5E	Joubert syndrome, type 1	Autosomal recessive	Caucasian/European population	1 in 156	1 in 401	1 in 250484	1 in 644541	1 in 1606	1 in 624	1 in 1606	1 in 4
INPP5K	Muscular dystrophy, congenital, with cataracts and intellectual disability	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
INPPL1	Opsismodysplasia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
INS	Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive*	General population	≤1 in 500	<1 in 2061	<1 in 1,000,000	<1 in 1,000,000	<1 in 8246	<1 in 2000	<1 in 8246	1 in 4
INSR	Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A	Autosomal recessive	General population	≤1 in 500	<1 in 1576	<1 in 1,000,000	<1 in 1,000,000	<1 in 6305	<1 in 2000	<1 in 6305	1 in 4
INTS1	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
INVS	Nephronophthisis, type 2, infantile	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
IQCB1	Senior-Loken syndrome, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
IQCE	Polydactyly, postaxial, type A7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
IQSEC2	Mental retardation, X-linked, type 1/78	X-linked	General population	1 in 45000	1 in 57328	1 in 229314	-	-	1 in 4	-	-
IRAK4	IRAK4 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 778	<1 in 1,000,000	<1 in 1,000,000	<1 in 3112	<1 in 2000	<1 in 3112	1 in 4
IRF8	Immunodeficiency, type 32B, monocyte and dendritic cell deficiency, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
IRS4	Hypothyroidism, congenital, nongoitrous, 9	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
IRX5	Hamamy syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
ISCA1	Multiple mitochondrial dysfunctions syndrome 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ISCA2	Multiple mitochondrial dysfunctions syndrome 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ISCU	Myopathy with lactic acidosis, hereditary	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
ISG15	Immunodeficiency 38	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ITCH	Autoimmune disease, multisystem, with facial dysmorphism	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
ITGA2B	Glanzmann thrombasthenia	Autosomal recessive	General population	≤1 in 500	<1 in 573	<1 in 1,000,000	<1 in 1,000,000	<1 in 2292	<1 in 2000	<1 in 2292	1 in 4
ITGA3	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
ITGA6	Epidermolysis bullosa, junctional, with pyloric stenosis	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
ITGA7	Muscular dystrophy, congenital, due to ITGA7 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 792	<1 in 1,000,000	<1 in 1,000,000	<1 in 3168	<1 in 2000	<1 in 3168	1 in 4
ITGA8	Renal hypodysplasia/aplasia 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ITGB2	Leukocyte adhesion deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1392	<1 in 1,000,000	<1 in 1,000,000	<1 in 5570	<1 in 2000	<1 in 5570	1 in 4
ITGB3	Glanzmann thrombasthenia	Autosomal recessive	General population	≤1 in 500	<1 in 706	<1 in 1,000,000	<1 in 1,000,000	<1 in 2825	<1 in 2000	<1 in 2825	1 in 4
ITGB4	Epidermolysis bullosa, junctional, with pyloric atresia	Autosomal recessive	General population	≤1 in 500	<1 in 3831	<1 in 1,000,000	<1 in 1,000,000	<1 in 15322	<1 in 2000	<1 in 15322	1 in 4
ITGB6	Amelogenesis imperfecta, type 1H	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ITK	Lymphoproliferative syndrome 1	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
ITPA	Epileptic encephalopathy, early infantile, type 35	Autosomal recessive	Caucasian/European population	1 in 2093	1 in 2616	<1 in 1,000,000	<1 in 1,000,000	1 in 10464	1 in 8372	1 in 10464	1 in 4
ITPR1	Gillespie syndrome	Autosomal recessive*	General population	≤1 in 500	<1 in 825	<1 in 1,000,000	<1 in 1,000,000	<1 in 3301	<1 in 2000	<1 in 3301	1 in 4
IVD	Isovaleric acidemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 115 1 in 100 1 in 901 1 in 733 1 in 532	1 in 1,749 1 in 1533 1 in 13815 1 in 11239 1 in 8157	1 in 804540 1 in 613333 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6996 1 in 6133 1 in 55261 1 in 44957 1 in 32629	1 in 460 1 in 400 1 in 3604 1 in 2932 1 in 2128	1 in 6996 1 in 6133 1 in 55261 1 in 44957 1 in 32629	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
IYD	Thyroid dyshormonogenesis, type 4	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 633 N/A N/A N/A N/A	1 in 402588 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2532 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 2532 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
JAGN1	Neutropenia, severe congenital, 6, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
JAK3	Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 475 1 in 174 1 in 1661 1 in 686 1 in 803	1 in 732 1 in 268 1 in 2561 1 in 1058 1 in 1238	<1 in 1,000,000 1 in 186702 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 287832 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2927 1 in 1073 1 in 10243 1 in 4230 1 in 4952	1 in 1900 1 in 696 1 in 6644 1 in 2744 1 in 3212	1 in 2927 1 in 1073 1 in 10243 1 in 4230 1 in 4952	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
JAM3	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
JUP	Naxos disease	Autosomal recessive	General population	≤1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
KANK2	Nephrotic syndrome, type 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KARS1	Deafness, autosomal recessive, type 89	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
KATNB1	Lissencephaly 6, with microcephaly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KATNIP	Joubert syndrome 26	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KCNE1	Jervell and Lange-Nielsen syndrome 2	Autosomal recessive	General population	≤1 in 500	<1 in 591	<1 in 1,000,000	<1 in 1,000,000	<1 in 2365	<1 in 2000	<1 in 2365	1 in 4
KCNJ1	Bartter syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 1167	1 in 3110	<1 in 1,000,000	<1 in 1,000,000	1 in 12441	1 in 4668	1 in 12441	1 in 4
KCNJ10	SESAME syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 938	<1 in 1,000,000	<1 in 1,000,000	<1 in 3750	<1 in 2000	<1 in 3750	1 in 4
KCNJ11	Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive; Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino	1 in 232 1 in 2899 1 in 420 1 in 1924 1 in 773	1 in 478 1 in 5985 1 in 867 1 in 3972 1 in 1596	1 in 443494 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 913566 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1912 1 in 23940 1 in 3468 1 in 15889 1 in 6383	1 in 928 1 in 11596 1 in 1680 1 in 7696 1 in 3092	1 in 1912 1 in 23940 1 in 3468 1 in 15889 1 in 6383	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
KCNJ13	Leber congenital amaurosis, type 16	Autosomal recessive	General population	≤1 in 500	<1 in 643	<1 in 1,000,000	<1 in 1,000,000	<1 in 2573	<1 in 2000	<1 in 2573	1 in 4
KCNV2	Retinal cone dystrophy, type 3B	Autosomal recessive	General population	≤1 in 500	<1 in 720	<1 in 1,000,000	<1 in 1,000,000	<1 in 2881	<1 in 2000	<1 in 2881	1 in 4
KCTD7	Epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions	Autosomal recessive	Caucasian/European population	1 in 1083	1 in 1840	<1 in 1,000,000	<1 in 1,000,000	1 in 7362	1 in 4332	1 in 7362	1 in 4
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
KDM6A	Kabuki syndrome, type 2	X-linked	General population	≤1 in 500	<1 in 800000	<1 in 1,000,000	-	-	1 in 4	-	-
KDSR	Erythrokeratodermia variabilis et progressiva 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KERA	Cornea plana 2, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
KHDC3L	Hydatidiform mole, recurrent, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
KIAA0586	Short-rib thoracic dysplasia 14 with polydactyly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KIAA0753	?Orofaciodigital syndrome, type 15	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KIAA1109	Alkuraya-Kucinskas syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KIAA1549	Retinitis pigmentosa, type 86	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KIF14	Microcephaly 20, primary, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 1010	Reduced	Reduced	Reduced	Reduced	1 in 4040	Reduced	1 in 4
KIF1A	Neuropathy, hereditary sensory, type 2C; Spastic paraplegia, type 30, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 849	<1 in 1,000,000	<1 in 1,000,000	<1 in 3396	<1 in 2000	<1 in 3396	1 in 4
KIF1C	Spastic ataxia 2, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KIF7	Acrocallosal syndrome; Joubert syndrome, type 12	Autosomal recessive	General population	≤1 in 500	<1 in 2332	<1 in 1,000,000	<1 in 1,000,000	<1 in 9328	<1 in 2000	<1 in 9328	1 in 4
KIFBP	Goldberg-Shprintzen megacolon syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
KISS1R	Hypogonadotropic hypogonadism, type 8, with or without anosmia	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
KIZ	Retinitis pigmentosa 69	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KLC2	Spastic paraplegia, optic atrophy, and neuropathy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KLHL15	Mental retardation, X-linked 103	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
KLHL3	Pseudohypoaldosteronism, type 2D	Autosomal recessive	General population	≤1 in 500	<1 in 3997	<1 in 1,000,000	<1 in 1,000,000	<1 in 15988	<1 in 2000	<1 in 15988	1 in 4
KLHL40	Nemaline myopathy 8, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KLHL41	Nemaline myopathy 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KLHL7	Cold-induced sweating syndrome 3	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
KLK4	Amelogenesis imperfecta, type 2A1 (hypomaturation type)	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
KLKB1	Fletcher factor (prekallikrein) deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
KNL1	Microcephaly 4, primary, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 546	<1 in 1,000,000	<1 in 1,000,000	<1 in 2184	<1 in 2000	<1 in 2184	1 in 4
KPTN	Mental retardation, autosomal recessive 41	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KREMEN1	Ectodermal dysplasia 13, hair/tooth type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KRT10	Epidermolytic hyperkeratosis	Autosomal recessive*	General population	≤1 in 500	<1 in 2099	<1 in 1,000,000	<1 in 1,000,000	<1 in 8396	<1 in 2000	<1 in 8396	1 in 4
KRT14	Epidermolysis bullosa simplex, autosomal recessive, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
KRT18	Cirrhosis, cryptogenic	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KRT25	Woolly hair, autosomal recessive 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KRT5	Epidermolysis bullosa simplex, autosomal recessive, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 771	<1 in 1,000,000	<1 in 1,000,000	<1 in 3084	<1 in 2000	<1 in 3084	1 in 4
KRT8	Cirrhosis, cryptogenic	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KRT83	Erythrokeratodermia variabilis et progressiva 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KRT85	Ectodermal dysplasia 4, hair/nail type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KY	Myopathy, myofibrillar, 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
KYNU	Vertebral, cardiac, renal, and limb defects syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
L1CAM	L1 Syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 15,000 N/A N/A N/A N/A	<1 in 49,000 N/A N/A N/A N/A	1 in 196259 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
L2HGDH	L-2-hydroxyglutaric aciduria	Autosomal recessive	General population	≤1 in 500	<1 in 2124	<1 in 1,000,000	<1 in 1,000,000	<1 in 8496	<1 in 2000	<1 in 8496	1 in 4
LAGE3	Galloway-Mowat syndrome 2, X-linked	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
LAMA1	Poretti-Boltshauser syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1178	<1 in 1,000,000	<1 in 1,000,000	<1 in 4714	<1 in 2000	<1 in 4714	1 in 4
LAMA2	LAMA2-related muscular dystrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 125 1 in 159 <1 in 610 1 in 306 1 in 114	1 in 656 1 in 840 1 in 3224 1 in 1617 1 in 603	1 in 328214 1 in 534513 <1 in 1,000,000 <1 in 1,000,000 1 in 274773	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2626 1 in 3362 1 in 12897 1 in 6470 1 in 2410	1 in 500 1 in 636 1 in 2440 1 in 1224 1 in 456	1 in 2626 1 in 3362 1 in 12897 1 in 6470 1 in 2410	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LAMA3	Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 606 1 in 782 1 in 495 1 in 810 1 in 1416	1 in 60,501 1 in 78200 1 in 49500 1 in 81000 1 in 141600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 242004 1 in 312800 1 in 198000 1 in 324000 1 in 566400	1 in 2424 1 in 3128 1 in 1980 1 in 3240 1 in 5664	1 in 242004 1 in 312800 1 in 198000 1 in 324000 1 in 566400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LAMB1	Lissencephaly, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
LAMB2	Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities	Autosomal recessive	General population	<1 in 500	<1 in 1200	<1 in 1,000,000	<1 in 1,000,000	<1 in 4799	<1 in 2000	<1 in 4799	1 in 4
LAMB3	Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 222 1 in 268 1 in 877 1 in 629 1 in 1122	1 in 22,101 1 in 26800 1 in 87700 1 in 62900 1 in 112200	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 88404 1 in 107200 1 in 350800 1 in 251600 1 in 448800	1 in 888 1 in 1072 1 in 3508 1 in 2516 1 in 4488	1 in 88404 1 in 107200 1 in 350800 1 in 251600 1 in 448800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LAMC2	Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 772 1 in 823 1 in 285 1 in 1707 1 in 4197	1 in 5,949 1 in 6349 1 in 2199 1 in 13168 1 in 32377	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 23795 1 in 25395 1 in 8794 1 in 52673 1 in 129507	1 in 3088 1 in 3292 1 in 1140 1 in 6828 1 in 16788	1 in 23795 1 in 25395 1 in 8794 1 in 52673 1 in 129507	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LAMC3	Cortical malformations, occipital	Autosomal recessive	General population	≤1 in 500	<1 in 643	<1 in 1,000,000	<1 in 1,000,000	<1 in 2573	<1 in 2000	<1 in 2573	1 in 4
LAMP2	Danon disease	X-linked	General population	≤1 in 500	<1 in 1649999	<1 in 1,000,000	-	-	1 in 4	-	-
LAMTOR2	Immunodeficiency due to defect in MAPBP-interacting protein	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LARGE1	Muscular dystrophy-dystroglycanopathy, type 6A and 6B	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 123 N/A N/A N/A N/A	1 in 287 N/A N/A N/A N/A	1 in 141663 N/A N/A N/A N/A	1 in 329017 N/A N/A N/A N/A	1 in 1147 N/A N/A N/A N/A	1 in 494 N/A N/A N/A N/A	1 in 1147 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LARP7	Alazami syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LARS1	?Infantile liver failure syndrome 1	Autosomal recessive	Caucasian/European population	1 in 1000	Reduced	Reduced	Reduced	Reduced	1 in 4000	Reduced	1 in 4
LARS2	Perrault syndrome, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
LAS1L	Wilson-Turner syndrome	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
LAT	Immunodeficiency 52	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LBR	Greenberg skeletal dysplasia	Autosomal recessive	General population	≤1 in 500	<1 in 850	<1 in 1,000,000	<1 in 1,000,000	<1 in 3401	<1 in 2000	<1 in 3401	1 in 4
LCA5	Leber congenital amaurosis, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,811 1 in 1862 1 in 1310 1 in 1899 1 in 8124	1 in 2,237 1 in 2300 1 in 1618 1 in 2346 1 in 10036	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8948 1 in 9200 1 in 6473 1 in 9383 1 in 40142	1 in 7244 1 in 7448 1 in 5240 1 in 7596 1 in 32496	1 in 8948 1 in 9200 1 in 6473 1 in 9383 1 in 40142	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LCAT	Familial LCAT deficiency; Fish-eye disease	Autosomal recessive	General population	≤1 in 500	<1 in 1357	<1 in 1,000,000	<1 in 1,000,000	<1 in 5427	<1 in 2000	<1 in 5427	1 in 4
LCK	?Immunodeficiency 22	Autosomal recessive	Caucasian/European population	1 in 3606	Reduced	Reduced	Reduced	Reduced	1 in 14424	Reduced	1 in 4
LCT	Lactase deficiency, congenital	Autosomal recessive	General population	≤1 in 500	<1 in 1666	<1 in 1,000,000	<1 in 1,000,000	<1 in 6664	<1 in 2000	<1 in 6664	1 in 4
LDHA	Glycogen storage disease type 11	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive	Autosomal recessive	Caucasian/European population	1 in 2721	1 in 3710	<1 in 1,000,000	<1 in 1,000,000	1 in 14840	1 in 10884	1 in 14840	1 in 4
LEMD2	Cataract 46, juvenile-onset	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LEP	Obesity, morbid, due to leptin deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
LEPR	Obesity, morbid, due to leptin receptor deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
LGI4	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LHB	Hypogonadotropic hypogonadism, type 23, with or without anosmia	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
LHCGR	Leydig cell hypoplasia	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,060 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4250 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4250 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LHFPL5	Deafness, autosomal recessive type 67	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
LHX3	Pituitary hormone deficiency, combined, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,398 N/A 1 in 1210 N/A N/A	1 in 9,780 N/A 1 in 8470 N/A N/A	<1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A	<1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A	1 in 39120 N/A 1 in 33880 N/A N/A	1 in 5592 N/A 1 in 4840 N/A N/A	1 in 39120 N/A 1 in 33880 N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LIAS	Hyperglycinemia, lactic acidosis, and seizures	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
LIFR	Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 848 1 in 1444 1 in 1719 1 in 512 1 in 1670	1 in 2,881 1 in 4910 1 in 5845 1 in 1741 1 in 5678	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 11523 1 in 19638 1 in 23378 1 in 6963 1 in 22712	1 in 3392 1 in 5776 1 in 6876 1 in 2048 1 in 6680	1 in 11523 1 in 19638 1 in 23378 1 in 6963 1 in 22712	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LIG4	LIG4 syndrome	Autosomal recessive	Caucasian/European population	1 in 580	1 in 1114	<1 in 1,000,000	<1 in 1,000,000	1 in 4458	1 in 2320	1 in 4458	1 in 4
LIM2	Cataract 19, multiple types	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LIMS2	?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LINS1	Mental retardation, autosomal recessive, type 27	Autosomal recessive	General population	≤1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
LIPA	Lysosomal acid lipase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 112 1 in 565 1 in 635 1 in 769 1 in 329 1 in 634 1 in 26	1 in 176 1 in 890 1 in 1000 1 in 1211 1 in 518 1 in 31700 1 in 867	1 in 78770 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 681918 <1 in 1,000,000 1 in 90133	1 in 123658 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 703 1 in 3560 1 in 4001 1 in 4845 1 in 2073 1 in 126800 1 in 3467	1 in 448 1 in 2260 1 in 2540 1 in 3076 1 in 1316 1 in 2536 1 in 104	1 in 703 1 in 3560 1 in 4001 1 in 4845 1 in 2073 1 in 126800 1 in 3467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LIPC	Hepatic lipase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LIPE	Lipodystrophy, familial partial, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
LIPH	Hypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 2,995 1 in 3000 N/A N/A 1 in 3000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 11980 1 in 12000 N/A N/A 1 in 12000	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 11980 1 in 12000 N/A N/A 1 in 12000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LIPN	Ichthyosis, congenital, autosomal recessive 8	Autosomal recessive	Caucasian/European population	1 in 335	Reduced	Reduced	Reduced	Reduced	1 in 1340	Reduced	1 in 4
LIPT1	Lipoyltransferase 1 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LIPT2	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LMAN1	Combined deficiency of factor V and factor VIII, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
LMBR1	Acheiropody	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 414 1 in 1035 1 in 1835 1 in 2536 1 in 363	1 in 552 1 in 1380 1 in 2447 1 in 3381 1 in 484	1 in 913560 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 702768	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 937024	1 in 2207 1 in 5520 1 in 9787 1 in 13525 1 in 1936	1 in 1656 1 in 4140 1 in 7340 1 in 10144 1 in 1452	1 in 2207 1 in 5520 1 in 9787 1 in 13525 1 in 1936	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LMF1	Lipase deficiency, combined	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
LMNA	LMNA-related disorders, autosomal recessive	Autosomal recessive	General population	1 in 374	1 in 389	1 in 582766	1 in 606027	1 in 1557	1 in 1497	1 in 1557	1 in 4
LMOD3	Nemaline myopathy 10	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LONP1	CODAS syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LOXHD1	Deafness, autosomal recessive, type 77	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 150 1 in 282 1 in 358 1 in 353 1 in 341 1 in 180	1 in 293 1 in 552 1 in 701 1 in 691 1 in 668 1 in 6000	1 in 175675 1 in 622938 <1 in 1,000,000 1 in 976104 1 in 910868 <1 in 1,000,000	1 in 342908 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1171 1 in 2209 1 in 2804 1 in 2765 1 in 2671 1 in 24000	1 in 600 1 in 1128 1 in 1432 1 in 1412 1 in 1364 1 in 720	1 in 1171 1 in 2209 1 in 2804 1 in 2765 1 in 2671 1 in 24000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LPAR6	Hypotrichosis, type 8 or woolly hair, autosomal recessive, type 1, with or without hypotrichosis	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
LPIN1	Myoglobinuria, acute recurrent, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
LPIN2	Majeed syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1300	<1 in 1,000,000	<1 in 1,000,000	<1 in 5199	<1 in 2000	<1 in 5199	1 in 4
LPL	Lipoprotein lipase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 374 1 in 68 1 in 1452 1 in 214 1 in 145	1 in 1,120 1 in 204 1 in 4356 1 in 642 1 in 435	<1 in 1,000,000 1 in 55488 <1 in 1,000,000 1 in 549552 1 in 252300	<1 in 1,000,000 1 in 166464 <1 in 1,000,000 <1 in 1,000,000 1 in 756900	1 in 4480 1 in 816 1 in 17424 1 in 2568 1 in 1740	1 in 1496 1 in 272 1 in 5808 1 in 856 1 in 580	1 in 4480 1 in 816 1 in 17424 1 in 2568 1 in 1740	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LRAT	Leber congenital amaurosis type 14	Autosomal recessive	Caucasian/European population	1 in 7035	1 in 11431	<1 in 1,000,000	<1 in 1,000,000	1 in 45725	1 in 28140	1 in 45725	1 in 4
LRBA	Immunodeficiency, common variable, 8, with autoimmunity	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LRIG2	Urofacial syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LRIT3	Night blindness, congenital stationary (complete), 1F, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LRMDA	Albinism, oculocutaneous, type 7	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
LRP2	Donnai-Barrow syndrome	Autosomal recessive	Caucasian/European population	1 in 260	1 in 1253	<1 in 1,000,000	<1 in 1,000,000	1 in 5011	1 in 1040	1 in 5011	1 in 4
LRP4	Cenani-Lenz syndactyly syndrome	Autosomal recessive	General population	<1 in 500	<1 in 1624	<1 in 1,000,000	<1 in 1,000,000	<1 in 6498	<1 in 2000	<1 in 6498	1 in 4
LRP5	Osteoporosis-pseudoglioma syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1177	<1 in 1,000,000	<1 in 1,000,000	<1 in 4709	<1 in 2000	<1 in 4709	1 in 4
LRPAP1	Myopia, type 23, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
LRPPRC	Leigh syndrome, French-Canadian type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 768 1 in 655 1 in 222 1 in 758 1 in 1786	1 in 1,560 1 in 1331 1 in 451 1 in 1540 1 in 3630	<1 in 1,000,000 <1 in 1,000,000 1 in 400631 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 814186 <1 in 1,000,000 <1 in 1,000,000	1 in 6239 1 in 5325 1 in 1805 1 in 6162 1 in 14518	1 in 3072 1 in 2620 1 in 888 1 in 3032 1 in 7144	1 in 6239 1 in 5325 1 in 1805 1 in 6162 1 in 14518	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LRRC6	Ciliary dyskinesia, primary, type 19	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
LRSAM1	Charcot-Marie-Tooth disease, axonal, type 2P	Autosomal recessive	General population	≤1 in 500	<1 in 646	<1 in 1,000,000	<1 in 1,000,000	<1 in 2585	<1 in 2000	<1 in 2585	1 in 4
LRTOMT	Deafness, autosomal recessive type 63	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
LSS	Cataract 44	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LTBP2	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Autosomal recessive	General population	1 in 80	1 in 174	1 in 55498	1 in 121259	1 in 696	1 in 319	1 in 696	1 in 4
LTBP3	Dental anomalies and short stature	Autosomal recessive	General population	≤1 in 500	<1 in 1624	<1 in 1,000,000	<1 in 1,000,000	<1 in 6498	<1 in 2000	<1 in 6498	1 in 4
LTBP4	Cutis laxa, autosomal recessive, type 1C	Autosomal recessive	Caucasian/European population	1 in 64	1 in 118	1 in 30208	1 in 55696	1 in 472	1 in 256	1 in 472	1 in 4
LTC4S	Leukotriene C4 synthase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LYRM7	Mitochondrial complex III deficiency, nuclear type 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
LYST	Chediak-Higashi syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
LZTFL1	Bardet-Biedl syndrome, type 17	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
LZTR1	Noonan syndrome, type 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MAG	Spastic paraplegia 75, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MAGED2	Bartter syndrome, type 5, antenatal, transient	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
MAGI2	Nephrotic syndrome, type 15	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
MAGT1	Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	X-linked	General population	<1 in 500,000	<1 in 558824	<1 in 1,000,000	-	-	1 in 4	-	-
MAK	Retinitis pigmentosa type 62	Autosomal recessive	Caucasian/European population	1 in 1010	1 in 1709	<1 in 1,000,000	<1 in 1,000,000	1 in 6834	1 in 4040	1 in 6834	1 in 4
MALT1	Immunodeficiency 12	Autosomal recessive	Caucasian/European population	1 in 680	Reduced	Reduced	Reduced	Reduced	1 in 2720	Reduced	1 in 4
MAMLD1	Hypospadias 2, X-linked	X-linked	General population	≤1 in 500	<1 in 49999951	<1 in 1,000,000	-	-	1 in 4	-	-
MAN1B1	Mental retardation, autosomal recessive, type 15	Autosomal recessive	General population	≤1 in 500	<1 in 778	<1 in 1,000,000	<1 in 1,000,000	<1 in 3112	<1 in 2000	<1 in 3112	1 in 4
MAN2B1	Alpha-mannosidosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 274 1 in 290 1 in 982 1 in 795 1 in 665	1 in 1,247 1 in 1323 1 in 4480 1 in 3627 1 in 3034	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4986 1 in 5293 1 in 17922 1 in 14509 1 in 12136	1 in 1096 1 in 1160 1 in 3928 1 in 3180 1 in 2660	1 in 4986 1 in 5293 1 in 17922 1 in 14509 1 in 12136	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MANBA	Mannosidosis, beta	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 684 1 in 1057 1 in 1513 1 in 1028 1 in 345	1 in 1,709 1 in 2643 1 in 3783 1 in 2570 1 in 863	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6834 1 in 10570 1 in 15130 1 in 10280 1 in 3450	1 in 2736 1 in 4228 1 in 6052 1 in 4112 1 in 1380	1 in 6834 1 in 10570 1 in 15130 1 in 10280 1 in 3450	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MAOA	Brunner syndrome	X-linked	General population	≤1 in 500	<1 in 1000000	<1 in 1,000,000	-	-	1 in 4	-	-
MAP3K20	Centronuclear myopathy 6 with fiber-type disproportion	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MAPKBP1	Nephronophthisis 20	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MAPT	Supranuclear palsy, progressive atypical (parkinsonism syndrome)	Autosomal recessive	General population	≤1 in 500	<1 in 572	<1 in 1,000,000	<1 in 1,000,000	<1 in 2287	<1 in 2000	<1 in 2287	1 in 4
MARS1	Interstitial lung and liver disease	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MARS2	Spastic ataxia, type 3, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
MARVELD2	Deafness, autosomal recessive type 49	Autosomal recessive	General population	≤1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
MASP1	3MC syndrome 1	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
MASP2	MASP2 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MAT1A	Methionine adenosyltransferase deficiency, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 708 N/A N/A N/A N/A	1 in 1,920 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 7680 N/A N/A N/A N/A	1 in 2832 N/A N/A N/A N/A	1 in 7680 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MATN3	?Spondyloepimetaphyseal dysplasia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MBOAT7	Mental retardation, autosomal recessive 57	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MBTPS2	IFAP/BRESHECK syndrome; Osteogenesis imperfecta, type 19	X-linked	General population	≤1 in 500	<1 in 1375000	<1 in 1,000,000	-	-	1 in 4	-	-
MC2R	Glucocorticoid deficiency, due to ACTH unresponsiveness	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
MCCC1	3-Methylcrotonyl-CoA carboxylase deficiency, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 353 1 in 904 1 in 1157 1 in 417 1 in 370	1 in 705 1 in 1808 1 in 2314 1 in 834 1 in 740	1 in 995460 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2820 1 in 7232 1 in 9256 1 in 3336 1 in 2960	1 in 1412 1 in 3616 1 in 4628 1 in 1668 1 in 1480	1 in 2820 1 in 7232 1 in 9256 1 in 3336 1 in 2960	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCCC2	3-Methylcrotonyl-CoA carboxylase deficiency, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 204 1 in 407 1 in 192 1 in 308 1 in 125	1 in 788 1 in 1577 1 in 744 1 in 1194 1 in 484	1 in 642702 <1 in 1,000,000 1 in 571392 <1 in 1,000,000 1 in 242188	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 938477	1 in 3151 1 in 6309 1 in 2976 1 in 4774 1 in 1938	1 in 816 1 in 1628 1 in 768 1 in 1232 1 in 500	1 in 3151 1 in 6309 1 in 2976 1 in 4774 1 in 1938	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCEE	Methylmalonyl-CoA epimerase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 1 in 1878 1 in 2277 1 in 7646 N/A	1 in 50,000 1 in 187800 1 in 227700 1 in 764600 N/A	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A	1 in 199804 1 in 751200 1 in 910800 <1 in 1,000,000 N/A	1 in 2002 1 in 7512 1 in 9108 1 in 30584 N/A	1 in 199804 1 in 751200 1 in 910800 <1 in 1,000,000 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCFD2	Combined deficiency of factor V and factor VIII, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
MCIDAS	Ciliary dyskinesia, primary, 42	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MCM3AP	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	Autosomal recessive	General population	≤1 in 500	<1 in 643	<1 in 1,000,000	<1 in 1,000,000	<1 in 2573	<1 in 2000	<1 in 2573	1 in 4
MCM4	Immunodeficiency 54	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MCM9	Ovarian dysgenesis 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MCOLN1	Mucolipidosis type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,166 1 in 2037 N/A 1 in 2565 1 in 1537 1 in 115	1 in 4,850 1 in 8479 N/A 1 in 10677 1 in 6398 1 in 483	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 214707	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 933511	1 in 19402 1 in 33917 N/A 1 in 42709 1 in 25592 1 in 1932	1 in 4664 1 in 8148 N/A 1 in 10260 1 in 6148 1 in 444	1 in 19402 1 in 33917 N/A 1 in 42709 1 in 25592 1 in 1932	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MCPH1	Microcephaly type 1, primary, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
MDH2	Epileptic encephalopathy, early infantile, 51	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MECP2	Encephalopathy, neonatal severe; Rett syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
MECR	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MED12	Lujan-Fryns syndrome	X-linked	General population	≤1 in 500	<1 in 629630	<1 in 1,000,000	-	-	1 in 4	-	-
MED17	Microcephaly, postnatal progressive, with seizures and brain atrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,287 N/A N/A N/A N/A N/A 1 in 20	N/A N/A N/A N/A N/A N/A 1 in 667	N/A N/A N/A N/A N/A N/A 1 in 53333	N/A N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A N/A 1 in 2667	1 in 5148 N/A N/A N/A N/A N/A 1 in 80	N/A N/A N/A N/A N/A N/A 1 in 2667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MED23	Mental retardation, autosomal recessive, type 18	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
MED25	Basel-Vanagait-Smirin-Yosef syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
MEFV	Familial Mediterranean fever	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 40 1 in 230 1 in 141 1 in 56 1 in 74 1 in 8-13	1 in 95 1 in 552 1 in 338 1 in 134 1 in 178 N/A	1 in 15136 1 in 507840 1 in 190858 1 in 30106 1 in 52570 N/A	1 in 35797 <1 in 1,000,000 1 in 458058 1 in 72253 1 in 126167 N/A	1 in 378 1 in 2208 1 in 1354 1 in 538 1 in 710 N/A	1 in 160 1 in 920 1 in 564 1 in 224 1 in 296 1 in 40	1 in 378 1 in 2208 1 in 1354 1 in 538 1 in 710 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MEGF10	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	Autosomal recessive	General population	≤1 in 500	<1 in 1642	<1 in 1,000,000	<1 in 1,000,000	<1 in 6569	<1 in 2000	<1 in 6569	1 in 4
MEGF8	Carpenter syndrome 2	Autosomal recessive	Caucasian/European population	1 in 375	Reduced	Reduced	Reduced	Reduced	1 in 1500	Reduced	1 in 4
MEOX1	Klippel-Feil syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MERTK	Retinitis pigmentosa type 38	Autosomal recessive	General population	≤1 in 500	<1 in 730	<1 in 1,000,000	<1 in 1,000,000	<1 in 2920	<1 in 2000	<1 in 2920	1 in 4
MESP2	Spondylocostal dysostosis, type 2, autosomal recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 3,820 1 in 145 1 in 237 1 in 168 1 in 216	1 in 4,457 1 in 169 1 in 277 1 in 196 1 in 252	<1 in 1,000,000 1 in 98117 1 in 262122 1 in 131712 1 in 217728	<1 in 1,000,000 1 in 114469 1 in 305809 1 in 153664 1 in 254016	1 in 17826 1 in 677 1 in 1106 1 in 784 1 in 1008	1 in 15280 1 in 580 1 in 948 1 in 672 1 in 864	1 in 17826 1 in 677 1 in 1106 1 in 784 1 in 1008	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
METTL23	Mental retardation, autosomal recessive 44	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MFF	Encephalopathy due to defective mitochondrial and peroxisomal fission, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
MFN2	Charcot-Marie-Tooth disease, axonal, type 2A2B	Autosomal recessive	General population	≤1 in 500	<1 in 951	<1 in 1,000,000	<1 in 1,000,000	<1 in 3804	<1 in 2000	<1 in 3804	1 in 4
MFRP	Microphthalmia, isolated type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1363	<1 in 1,000,000	<1 in 1,000,000	<1 in 5453	<1 in 2000	<1 in 5453	1 in 4
MFSD2A	Microcephaly 15, primary, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
MFSD8	Ceroid lipofuscinosis, neuronal, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 555 1 in 1351 1 in 869 1 in 480 1 in 1289	1 in 1,272 1 in 3099 1 in 1994 1 in 1101 1 in 2957	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5088 1 in 12397 1 in 7974 1 in 4405 1 in 11828	1 in 2220 1 in 5404 1 in 3476 1 in 1920 1 in 5156	1 in 5088 1 in 12397 1 in 7974 1 in 4405 1 in 11828	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MGAT2	Congenital disorder of glycosylation, type 2a	Autosomal recessive	General population	<1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
MGME1	Mitochondrial DNA depletion syndrome 11	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MGP	Keutel syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MICU1	Myopathy with extrapyramidal signs	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MID1	Opitz GBBB syndrome, type 1	X-linked	General population	≤1 in 500	<1 in 964286	<1 in 1,000,000	-	-	1 in 4	-	-
MIPEP	Combined oxidative phosphorylation deficiency 31	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MITF	COMMAD syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 905	<1 in 1,000,000	<1 in 1,000,000	<1 in 3619	<1 in 2000	<1 in 3619	1 in 4
MKKS	Bardet-Biedl syndrome type 6	Autosomal recessive	Caucasian/European population	1 in 49	1 in 76	1 in 14922	1 in 23183	1 in 305	1 in 196	1 in 305	1 in 4
MKS1	Bardet-Biedl syndrome type 13; Meckel syndrome, type 1; Joubert syndrome, type 28	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 246 1 in 750 1 in 283 1 in 355 1 in 1066	1 in 859 1 in 2625 1 in 991 1 in 1243 1 in 3731	1 in 844764 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3434 1 in 10500 1 in 3962 1 in 4970 1 in 14924	1 in 984 1 in 3000 1 in 1132 1 in 1420 1 in 4264	1 in 3434 1 in 10500 1 in 3962 1 in 4970 1 in 14924	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 884 1 in 737 1 in 1710 1 in 1280 1 in 5597 1 in 196	1 in 4,416 1 in 3685 1 in 8550 1 in 6400 1 in 27985 1 in 19600	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 17664 1 in 14740 1 in 34200 1 in 25600 1 in 111940 1 in 78400	1 in 3536 1 in 2948 1 in 6840 1 in 5120 1 in 22388 1 in 784	1 in 17664 1 in 14740 1 in 34200 1 in 25600 1 in 111940 1 in 78400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MLPH	Griscelli syndrome, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
MLYCD	Malonyl-CoA decarboxylase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMAA	Methylmalonic aciduria, vitamin B12-responsive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 677 1 in 280 1 in 2156 1 in 1167 1 in 2098	1 in 2,619 1 in 1084 1 in 8349 1 in 4519 1 in 8124	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10475 1 in 4337 1 in 33396 1 in 18077 1 in 32497	1 in 2708 1 in 1120 1 in 8624 1 in 4668 1 in 8392	1 in 10475 1 in 4337 1 in 33396 1 in 18077 1 in 32497	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMAB	Methylmalonic aciduria, vitamin B12-responsive, type cblB	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 672 1 in 542 N/A 1 in 640 1 in 1411	1 in 3,220 1 in 2600 N/A 1 in 3070 1 in 6769	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 12879 1 in 10400 N/A 1 in 12280 1 in 27075	1 in 2688 1 in 2168 N/A 1 in 2560 1 in 5644	1 in 12879 1 in 10400 N/A 1 in 12280 1 in 27075	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	Autosomal recessive, digenic inheritance (PRDX1 gene)	General African/African American East Asian South Asian Latino	1 in 224 1 in 280 1 in 184 1 in 230 1 in 102	1 in 2,232 1 in 2800 1 in 1840 1 in 2300 1 in 1020	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 416160	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8928 1 in 11200 1 in 7360 1 in 9200 1 in 4080	1 in 896 1 in 1120 1 in 736 1 in 920 1 in 408	1 in 8928 1 in 11200 1 in 7360 1 in 9200 1 in 4080	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MMADHC	Homocystinuria, cblD type, variant 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,194 1 in 3366 1 in 1720 1 in 1282 1 in 5641	1 in 6,215 1 in 9537 1 in 4873 1 in 3632 1 in 15983	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 24858 1 in 38148 1 in 19493 1 in 14529 1 in 63931	1 in 8776 1 in 13464 1 in 6880 1 in 5128 1 in 22564	1 in 24858 1 in 38148 1 in 19493 1 in 14529 1 in 63931	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MME	Charcot-Marie-Tooth disease, axonal, type 2T	Autosomal recessive*	General population	≤1 in 500	<1 in 792	<1 in 1,000,000	<1 in 1,000,000	<1 in 3168	<1 in 2000	<1 in 3168	1 in 4
MMP1	{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MMP13	Metaphyseal dysplasia, Spahr type	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
MMP2	Multicentric osteolysis, nodulosis, and arthropathy (MONA)	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
MMP20	Amelogenesis imperfecta, type 2A2 (hypomaturation type)	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
MMP21	Heterotaxy, visceral, 7, autosomal	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MMP9	Metaphyseal anadysplasia 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MMUT	Methylmalonic aciduria, mut(0) type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 296 1 in 145 1 in 110 1 in 72 1 in 180	1 in 1,169 1 in 574 1 in 435 1 in 285 1 in 712	<1 in 1,000,000 1 in 332861 1 in 191563 1 in 82071 1 in 512946	<1 in 1,000,000 <1 in 1,000,000 1 in 758191 1 in 324831 <1 in 1,000,000	1 in 4674 1 in 2296 1 in 1741 1 in 1140 1 in 2850	1 in 1184 1 in 580 1 in 440 1 in 288 1 in 720	1 in 4674 1 in 2296 1 in 1741 1 in 1140 1 in 2850	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MOCOS	Xanthinuria, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
MOCS1	Molybdenum cofactor deficiency A	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
MOCS2	Molybdenum cofactor deficiency B	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
MOGS	Congenital disorder of glycosylation, type 2B	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 667 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2668 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 2668 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MPC1	Mitochondrial pyruvate carrier deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MPDU1	Congenital disorder of glycosylation, type 1F	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
MPDZ	Hydrocephalus, congenital, type 2, with or without brain or eye anomalies	Autosomal recessive	General population	≤1 in 500	<1 in 945	<1 in 1,000,000	<1 in 1,000,000	<1 in 3778	<1 in 2000	<1 in 3778	1 in 4
MPI	Congenital disorder of glycosylation, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 473 1 in 688 1 in 442 1 in 1924 1 in 1139	1 in 9441 1 in 13760 1 in 8840 1 in 38480 1 in 22780	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 37764 1 in 55040 1 in 35360 1 in 153920 1 in 91120	1 in 1892 1 in 2752 1 in 1768 1 in 7696 1 in 4556	1 in 37764 1 in 55040 1 in 35360 1 in 153920 1 in 91120	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MPIG6B	Thrombocytopenia, anemia, and myelofibrosis	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MPL	Thrombocytopenia, congenital amegakaryocytic	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 241 1 in 496 1 in 681 1 in 617 1 in 602 1 in 56	1 in 433 1 in 893 1 in 1226 1 in 1111 1 in 1084 1 in 1866	1 in 417412 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 417867	1 in 749956 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1732 1 in 3571 1 in 4903 1 in 4442 1 in 4334 1 in 7464	1 in 964 1 in 1984 1 in 2724 1 in 2468 1 in 2408 1 in 224	1 in 1732 1 in 3571 1 in 4903 1 in 4442 1 in 4334 1 in 7464	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MPLKIP	Trichothiodystrophy, type 4, nonphotosensitive	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
MPO	Myeloperoxidase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
MPV17	Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EE	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 612 1 in 566 N/A 1 in 1399 N/A	1 in 1,783 1 in 1651 N/A 1 in 4080 N/A	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A	1 in 7132 1 in 6603 N/A 1 in 16322 N/A	1 in 2448 1 in 2264 N/A 1 in 5596 N/A	1 in 7132 1 in 6603 N/A 1 in 16322 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MPZ	Dejerine-Sottas disease	Autosomal recessive*	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MRAP	Glucocorticoid deficiency, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
MRE11	Ataxia-telangiectasia-like disorder 1	Autosomal recessive	General Population	1 in 500	1 in 1099	<1 in 1,000,000	<1 in 1,000,000	1 in 4395	1 in 2000	1 in 4395	1 in 4
MRPL3	Combined oxidative phosphorylation deficiency 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MRPS16	Combined oxidative phosphorylation deficiency 2	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
MRPS2	Combined oxidative phosphorylation deficiency 36	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MRPS22	Combined oxidative phosphorylation deficiency type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
MRPS34	Combined oxidative phosphorylation deficiency 32	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MS4A1	Immunodeficiency, common variable, 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MSH3	Familial adenomatous polyposis, type 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MSMO1	Microcephaly, congenital cataract, and psoriasiform dermatitis	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
MSN	Immunodeficiency 50	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
MSRB3	Deafness, autosomal recessive, type 74	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MSTN	Muscle hypertrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MSTO1	Myopathy, mitochondrial, and ataxia	Autosomal recessive*	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MTFMT	Combined oxidative phosphorylation deficiency 15	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
MTHFD1	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Autosomal recessive	Caucasian/European population	1 in 201	1 in 258	1 in 207547	1 in 266551	1 in 1033	1 in 804	1 in 1033	1 in 4
MTHFR	Homocystinuria due to MTHFR deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,119 N/A N/A N/A N/A N/A 1 in 39	N/A N/A N/A N/A N/A N/A 1 in 1300	N/A N/A N/A N/A N/A N/A 1 in 202800	N/A N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A N/A 1 in 5200	1 in 4476 N/A N/A N/A N/A N/A 1 in 156	N/A N/A N/A N/A N/A N/A 1 in 5200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTM1	Myotubular myopathy, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 29,412 N/A N/A N/A N/A	<1 in 140,000 N/A N/A N/A N/A	1 in 561248 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
MTMR2	Charcot-Marie-Tooth disease, type 4B1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 1,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 4000 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTO1	Combined oxidative phosphorylation deficiency 10	Autosomal recessive	General population	≤1 in 500	<1 in 769	<1 in 1,000,000	<1 in 1,000,000	<1 in 3078	<1 in 2000	<1 in 3078	1 in 4
MTR	Homocystinuria-megaloblastic anemia, cblG complementation type	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 864 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3455 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 3455 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTRR	Homocystinuria-megaloblastic anemia, cbl E type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 642 1 in 759 N/A 1 in 2565 1 in 489	1 in 875 1 in 1035 N/A 1 in 3498 1 in 667	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 3500 1 in 4140 N/A 1 in 13991 1 in 2667	1 in 2568 1 in 3036 N/A 1 in 10260 1 in 1956	1 in 3500 1 in 4140 N/A 1 in 13991 1 in 2667	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MTTP	Abetalipoproteinemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 655 1 in 1354 1 in 1437 1 in 3078 1 in 2131 1 in 186	1 in 1,496 1 in 3095 1 in 3285 1 in 7035 1 in 4871 1 in 6200	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5983 1 in 12379 1 in 13138 1 in 28142 1 in 19483 1 in 24800	1 in 2620 1 in 5416 1 in 5748 1 in 12312 1 in 8524 1 in 744	1 in 5983 1 in 12379 1 in 13138 1 in 28142 1 in 19483 1 in 24800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MUSK	Fetal akinesia deformation sequence, type 1; Myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency	Autosomal recessive	General population	<1 in 500	<1 in 818	<1 in 1,000,000	<1 in 1,000,000	<1 in 3273	<1 in 2000	<1 in 3273	1 in 4
MUTYH	Adenomas, multiple colorectal	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MVK	Mevalonic aciduria	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 286 N/A N/A N/A N/A	1 in 2,261 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 9043 N/A N/A N/A N/A	1 in 1143 N/A N/A N/A N/A	1 in 9043 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MYBPC1	Lethal congenital contracture syndrome, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 563	<1 in 1,000,000	<1 in 1,000,000	<1 in 2252	<1 in 2000	<1 in 2252	1 in 4
MYD88	Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
MYH2	Proximal myopathy and ophthalmoplegia	Autosomal recessive	General population	≤1 in 500	<1 in 950	<1 in 1,000,000	<1 in 1,000,000	<1 in 3800	<1 in 2000	<1 in 3800	1 in 4
MYMK	Carey-Fineman-Ziter syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MYO15A	Deafness, autosomal recessive, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MYO18B	Klippel-Feil syndrome, type 4, autosomal recessive, with myopathy and facial dysmorphism	Autosomal recessive	General population	≤1 in 500	<1 in 584	<1 in 1,000,000	<1 in 1,000,000	<1 in 2335	<1 in 2000	<1 in 2335	1 in 4
MYO1E	Glomerulosclerosis, focal segmental, 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MYO3A	Deafness, autosomal recessive type 30	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
MYO5A	Griscelli syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
MYO5B	Microvillus inclusion disease	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
MYO6	Deafness, autosomal recessive type 37	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
MYO7A	Usher syndrome, type 1B; Deafness, autosomal recessive, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 129 1 in 174 1 in 119 1 in 61 1 in 300	1 in 371 1 in 503 1 in 344 1 in 176 1 in 867	1 in 191339 1 in 349888 1 in 163653 1 in 43002 <1 in 1,000,000	1 in 550004 <1 in 1,000,000 1 in 472818 1 in 124240 <1 in 1,000,000	1 in 1483 1 in 2011 1 in 1375 1 in 705 1 in 3467	1 in 516 1 in 696 1 in 476 1 in 244 1 in 1200	1 in 1483 1 in 2011 1 in 1375 1 in 705 1 in 3467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
MYPN	Nemaline myopathy, type 11, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
NAA10	Ogden syndrome	X-linked	General population	≤1 in 500	<1 in 909091	<1 in 1,000,000	-	-	1 in 4	-	-
NADK2	2,4-dienoyl-CoA reductase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NAGA	Schindler disease, type I	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
NAGLU	Mucopolysaccharidosis, type 3B (Sanfilippo B)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 346 1 in 216 1 in 324 1 in 442 1 in 647	1 in 644 1 in 403 1 in 604 1 in 824 1 in 1207	1 in 891820 1 in 348029 1 in 783064 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 649026 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2578 1 in 1611 1 in 2417 1 in 3297 1 in 4826	1 in 1384 1 in 864 1 in 1296 1 in 1768 1 in 2588	1 in 2578 1 in 1611 1 in 2417 1 in 3297 1 in 4826	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NAGS	N-acetylglutamate synthase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 920 1 in 701 N/A 1 in 2850 1 in 2493	1 in 1,755 1 in 1338 N/A 1 in 5441 1 in 4759	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 7022 1 in 5353 N/A 1 in 21764 1 in 19037	1 in 3680 1 in 2804 N/A 1 in 11400 1 in 9972	1 in 7022 1 in 5353 N/A 1 in 21764 1 in 19037	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NALCN	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NANS	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NARS2	Combined oxidative phosphorylation deficiency 24	Autosomal recessive	General population	≤1 in 500	<1 in 693	<1 in 1,000,000	<1 in 1,000,000	<1 in 2770	<1 in 2000	<1 in 2770	1 in 4
NAXE	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NBAS	Infantile liver failure syndrome, type 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly	Autosomal recessive	Caucasian/European population	1 in 228	1 in 342	1 in 311448	1 in 466489	1 in 1366	1 in 912	1 in 1366	1 in 4
NBEAL2	Gray platelet syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
NBN	Nijmegen breakage syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 525 1 in 503 1 in 2137 1 in 1025 1 in 1403	1 in 1,667 1 in 1600 1 in 6796 1 in 3260 1 in 4462	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6669 1 in 6398 1 in 27183 1 in 13038 1 in 17846	1 in 2100 1 in 2012 1 in 8548 1 in 4100 1 in 5612	1 in 6669 1 in 6398 1 in 27183 1 in 13038 1 in 17846	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NCAPD3	Microcephaly 22, primary, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NCF1	Chronic granulomatous disease, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 343 1 in 358 1 in 1110 1 in 437 1 in 220	1 in 1,027 1 in 1074 1 in 3330 1 in 1311 1 in 660	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 580800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4108 1 in 4296 1 in 13320 1 in 5244 1 in 2640	1 in 1372 1 in 1432 1 in 4440 1 in 1748 1 in 880	1 in 4108 1 in 4296 1 in 13320 1 in 5244 1 in 2640	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NCF2	Chronic granulomatous disease, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,883 1 in 556 1 in 2262 1 in 2189 1 in 8129	1 in 3,953 1 in 1168 1 in 4750 1 in 4597 1 in 17071	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15813 1 in 4670 1 in 19001 1 in 18388 1 in 68284	1 in 7532 1 in 2224 1 in 9048 1 in 8756 1 in 32516	1 in 15813 1 in 4670 1 in 19001 1 in 18388 1 in 68284	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NCF4	Chronic granulomatous disease, type 3	Autosomal recessive	Caucasian/European population	1 in 540	Reduced	Reduced	Reduced	Reduced	1 in 2160	Reduced	1 in 4
NDE1	Lissencephaly, type 4 (with microcephaly)	Autosomal recessive	General population	≤1 in 500	<1 in 616	<1 in 1,000,000	<1 in 1,000,000	<1 in 2463	<1 in 2000	<1 in 2463	1 in 4
NDP	Norrie disease	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
NDRG1	Charcot-Marie-Tooth disease, type 4D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 7,299 N/A 1 in 2252 1 in 4789 N/A	1 in 29,193 N/A 1 in 9008 1 in 19156 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	1 in 116772 N/A 1 in 36032 1 in 76624 N/A	1 in 29196 N/A 1 in 9008 1 in 19156 N/A	1 in 116772 N/A 1 in 36032 1 in 76624 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDST1	Mental retardation, autosomal recessive, type 46	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NDUFA1	Mitochondrial complex I deficiency	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
NDUFA10	Mitochondrial complex I deficiency, nuclear type 22	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
NDUFA11	Mitochondrial complex I deficiency, nuclear type 14	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
NDUFA12	?Mitochondrial complex I deficiency, nuclear type 23	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
NDUFA2	Mitochondrial complex I deficiency, nuclear type 13	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NDUFA9	Mitochondrial complex I deficiency, nuclear type 26	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NDUFAF1	Mitochondrial complex I deficiency, nuclear type 11	Autosomal recessive	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
NDUFAF2	Mitochondrial complex I deficiency, nuclear type 10	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,014 1 in 796 1 in 889 1 in 1326 1 in 1625	1 in 2,365 1 in 1857 1 in 2074 1 in 3094 1 in 3792	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9459 1 in 7429 1 in 8297 1 in 12376 1 in 15167	1 in 4056 1 in 3184 1 in 3556 1 in 5304 1 in 6500	1 in 9459 1 in 7429 1 in 8297 1 in 12376 1 in 15167	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFAF3	Mitochondrial complex I deficiency, nuclear type 18	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
NDUFAF4	Mitochondrial complex I deficiency, AR	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NDUFAF5	Mitochondrial complex I deficiency, nuclear type 16	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 982 1 in 861 1 in 309 1 in 1180 1 in 1625 ≤1 in 157	1 in 1,262 1 in 1107 1 in 397 1 in 1517 1 in 2089 1 in 6790	<1 in 1,000,000 <1 in 1,000,000 1 in 491045 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 631344 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5049 1 in 4428 1 in 1589 1 in 6069 1 in 8357 1 in 27162	1 in 3928 1 in 3444 1 in 1236 1 in 4720 1 in 6500 1 in 815	1 in 5049 1 in 4428 1 in 1589 1 in 6069 1 in 8357 1 in 27162	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFAF6	Mitochondrial complex I deficiency, nuclear type 17	Autosomal recessive	General population	≤1 in 500	<1 in 769	<1 in 1,000,000	<1 in 1,000,000	<1 in 3078	<1 in 2000	<1 in 3078	1 in 4
NDUFB11	Linear skin defects with multiple congenital anomalies, type 3; ?Mitochondrial complex I deficiency	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
NDUFB3	Mitochondrial complex I deficiency, nuclear type 25	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
NDUFB9	Mitochondrial complex I deficiency, AR	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NDUFS1	Mitochondrial complex I deficiency, nuclear type 5	Autosomal recessive	General population	≤1 in 500	<1 in 806	<1 in 1,000,000	<1 in 1,000,000	<1 in 3223	<1 in 2000	<1 in 3223	1 in 4
NDUFS2	Mitochondrial complex I deficiency, nuclear type 6	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
NDUFS3	Mitochondrial complex I deficiency, nuclear type 8	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
NDUFS4	Mitochondrial complex I deficiency, nuclear type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,738 1 in 1103 1 in 4597 1 in 1914 1 in 1207	1 in 5,212 1 in 3309 1 in 13791 1 in 5742 1 in 3621	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 20848 1 in 13236 1 in 55164 1 in 22968 1 in 14484	1 in 6952 1 in 4412 1 in 18388 1 in 7656 1 in 4828	1 in 20848 1 in 13236 1 in 55164 1 in 22968 1 in 14484	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 3,535 1 in 1896 1 in 1473 1 in 1398 1 in 2452 1 in 1113 1 in 24	1 in 4,419 1 in 2370 1 in 1841 1 in 1748 1 in 3065 1 in 37100 1 in 800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 76800	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 17674 1 in 9480 1 in 7365 1 in 6990 1 in 12260 1 in 148400 1 in 3200	1 in 14140 1 in 7584 1 in 5892 1 in 5592 1 in 9808 1 in 4452 1 in 96	1 in 17674 1 in 9480 1 in 7365 1 in 6990 1 in 12260 1 in 148400 1 in 3200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFS7	Mitochondrial complex I deficiency, nuclear type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 839 1 in 2327 1 in 3320 1 in 180 1 in 1552	1 in 1,049 1 in 2909 1 in 4150 1 in 225 1 in 1940	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 162000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 202500 <1 in 1,000,000	1 in 4194 1 in 11635 1 in 16600 1 in 900 1 in 7760	1 in 3356 1 in 9308 1 in 13280 1 in 720 1 in 6208	1 in 4194 1 in 11635 1 in 16600 1 in 900 1 in 7760	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFS8	Mitochondrial complex I deficiency, nuclear type 2	Autosomal recessive	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
NDUFV1	Mitochondrial complex I deficiency, nuclear type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 469 1 in 441 1 in 2260 1 in 319 1 in 157	1 in 736 1 in 693 1 in 3551 1 in 501 1 in 247	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 639641 1 in 154937	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 243472	1 in 2946 1 in 2772 1 in 14206 1 in 2005 1 in 987	1 in 1876 1 in 1764 1 in 9040 1 in 1276 1 in 628	1 in 2946 1 in 2772 1 in 14206 1 in 2005 1 in 987	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NDUFV2	Mitochondrial complex I deficiency, AR	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NEB	Nemaline myopathy type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 175 1 in 368 1 in 123 1 in 200 1 in 172 1 in 124	1 in 517 1 in 1091 1 in 365 1 in 593 1 in 510 1 in 123	1 in 361754 <1 in 1,000,000 1 in 179389 1 in 474291 1 in 350786 1 in 60074	<1 in 1,000,000 <1 in 1,000,000 1 in 531765 <1 in 1,000,000 <1 in 1,000,000 1 in 60681	1 in 2067 1 in 4363 1 in 1458 1 in 2371 1 in 2039 1 in 493	1 in 700 1 in 1472 1 in 492 1 in 800 1 in 688 1 in 488	1 in 2067 1 in 4363 1 in 1458 1 in 2371 1 in 2039 1 in 493	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NECTIN1	Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NECTIN4	Ectodermal dysplasia-syndactyly syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 3498	<1 in 1,000,000	<1 in 1,000,000	<1 in 13990	<1 in 2000	<1 in 13990	1 in 4
NEFL	Charcot-Marie-Tooth disease, type 1F	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
NEK1	Short-rib thoracic dysplasia, type 6, with or without polydactyly	Autosomal recessive	General population	≤1 in 500	<1 in 2299	<1 in 1,000,000	<1 in 1,000,000	<1 in 9195	<1 in 2000	<1 in 9195	1 in 4
NEK8	Renal-hepatic-pancreatic dysplasia, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 938	<1 in 1,000,000	<1 in 1,000,000	<1 in 3750	<1 in 2000	<1 in 3750	1 in 4
NEK9	Lethal congenital contracture syndrome 10	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NEU1	Sialidosis, type 1 and type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,666 1 in 2833 1 in 279 1 in 3045 1 in 636	1 in 2,841 1 in 4833 1 in 476 1 in 5194 1 in 1085	<1 in 1,000,000 <1 in 1,000,000 1 in 531150 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 906080 <1 in 1,000,000 <1 in 1,000,000	1 in 11365 1 in 19331 1 in 1904 1 in 20778 1 in 4340	1 in 6664 1 in 11332 1 in 1116 1 in 12180 1 in 2544	1 in 11365 1 in 19331 1 in 1904 1 in 20778 1 in 4340	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NEUROG3	Diarrhea type 4, malabsorptive, congenital	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
NEXMIF	Mental retardation, X-linked 98	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
NFU1	Multiple mitochondrial dysfunctions syndrome 1	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
NGF	Neuropathy, hereditary sensory and autonomic, type 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NGLY1	Congenital disorder of deglycosylation	Autosomal recessive	Caucasian/European population	1 in 610	Reduced	Reduced	Reduced	Reduced	1 in 2440	Reduced	1 in 4
NHEJ1	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	Autosomal recessive	Caucasian/European population	1 in 2750	1 in 10310	<1 in 1,000,000	<1 in 1,000,000	1 in 41239	1 in 11000	1 in 41239	1 in 4
NHLRC1	Epilepsy, progressive myoclonic, type 2B (Lafora)	Autosomal recessive	General population	≤1 in 500	<1 in 761	<1 in 1,000,000	<1 in 1,000,000	<1 in 3044	<1 in 2000	<1 in 3044	1 in 4
NHP2	Dyskeratosis congenita, autosomal recessive type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 24,964 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 99855 N/A N/A N/A N/A	1 in 1003 N/A N/A N/A N/A	1 in 99855 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NHS	Cataract 40, X-linked	X-linked	General population	≤1 in 500	<1 in 880953	<1 in 1,000,000	-	-	1 in 4	-	-
NIN	Seckel syndrome, type 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NIPAL4	Ichthyosis, congenital, autosomal recessive, type 6	Autosomal recessive	Caucasian/European population	1 in 372	1 in 418	1 in 622542	1 in 700151	1 in 1674	1 in 1488	1 in 1674	1 in 4
NKX2-6	Conotruncal heart malformations	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
NKX3-2	Spondylo-megaepiphyseal-metaphyseal dysplasia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NKX6-2	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NLGN4X	Mental retardation, X-linked	X-linked, Multifactorial, Isolated cases	General population	1 in 45000	1 in 67500	1 in 269998	-	-	1 in 4	-	-
NLRP1	Autoinflammation with arthritis and dyskeratosis	Autosomal recessive*	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
NLRP7	Hydatidiform mole, recurrent, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 722 1 in 722 N/A N/A 1 in 722	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2887 1 in 2889 N/A N/A 1 in 2889	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 2887 1 in 2889 N/A N/A 1 in 2889	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NME8	Ciliary dyskinesia, primary, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
NMNAT1	Leber congenital amaurosis type 9	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
NNT	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NONO	Mental retardation, X-linked, syndromic 34	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
NOP10	Dyskeratosis congenita, autosomal recessive type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 250 N/A N/A N/A N/A	1 in 500 N/A N/A N/A N/A	1 in 501507 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2001 N/A N/A N/A N/A	1 in 1003 N/A N/A N/A N/A	1 in 2001 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPC1	Niemann-Pick disease, type C1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 163 1 in 233 1 in 211 1 in 334 1 in 272	1 in 954 1 in 1371 1 in 1242 1 in 1965 1 in 1601	1 in 622209 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3817 1 in 5484 1 in 4967 1 in 7862 1 in 6402	1 in 652 1 in 932 1 in 844 1 in 1336 1 in 1088	1 in 3817 1 in 5484 1 in 4967 1 in 7862 1 in 6402	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPC2	Niemann-pick disease, type C2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 945 1 in 1214 N/A N/A 1 in 3089	1 in 3,588 1 in 4613 N/A N/A 1 in 11738	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 14353 1 in 18453 N/A N/A 1 in 46953	1 in 3780 1 in 4856 N/A N/A 1 in 12356	1 in 14353 1 in 18453 N/A N/A 1 in 46953	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPHP1	Joubert syndrome type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 418 1 in 315 1 in 164 1 in 536 1 in 218	1 in 825 1 in 623 1 in 324 1 in 1060 1 in 431	<1 in 1,000,000 1 in 784570 1 in 212666 <1 in 1,000,000 1 in 375771	<1 in 1,000,000 <1 in 1,000,000 1 in 420386 <1 in 1,000,000 1 in 742803	1 in 3301 1 in 2491 1 in 1297 1 in 4238 1 in 1724	1 in 1672 1 in 1260 1 in 656 1 in 2144 1 in 872	1 in 3301 1 in 2491 1 in 1297 1 in 4238 1 in 1724	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPHP3	Meckel syndrome type 7	Autosomal recessive	Caucasian/European population	1 in 73	1 in 123	1 in 35969	1 in 60695	1 in 493	1 in 292	1 in 493	1 in 4
NPHP4	Nephronophthisis type 4	Autosomal recessive	General population	≤1 in 500	<1 in 1154	<1 in 1,000,000	<1 in 1,000,000	<1 in 4615	<1 in 2000	<1 in 4615	1 in 4
NPHS1	Nephrotic syndrome, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 190 1 in 191 1 in 398 1 in 145 1 in 298	1 in 1,993 1 in 2013 1 in 4194 1 in 1528 1 in 3140	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 886285 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7971 1 in 8051 1 in 16777 1 in 6112 1 in 12562	1 in 760 1 in 764 1 in 1592 1 in 580 1 in 1192	1 in 7971 1 in 8051 1 in 16777 1 in 6112 1 in 12562	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPHS2	Nephrotic syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 226 1 in 456 1 in 595 1 in 733 1 in 884	1 in 601 1 in 1216 1 in 1587 1 in 1955 1 in 2357	1 in 543304 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2404 1 in 4864 1 in 6347 1 in 7819 1 in 9429	1 in 904 1 in 1824 1 in 2380 1 in 2932 1 in 3536	1 in 2404 1 in 4864 1 in 6347 1 in 7819 1 in 9429	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NPPA	Atrial standstill 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NPR2	Acromesomelic dysplasia, Maroteaux type	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
NR0B1	Adrenal hypoplasia, congenital	X-linked	General African/African American East Asian South Asian Latino	1 in 35,000 N/A N/A N/A N/A	<1 in 66,000 N/A N/A N/A N/A	1 in 265694 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
NR1H4	Cholestasis, progressive familial intrahepatic, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
NR2E3	Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37	Autosomal recessive; Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 278 1 in 389 1 in 488 1 in 874 1 in 536 1 in 81	1 in 417 1 in 584 1 in 732 1 in 1311 1 in 804 1 in 2700	1 in 463148 1 in 907926 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 874800	1 in 693889 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1666 1 in 2334 1 in 2928 1 in 5244 1 in 3216 1 in 10800	1 in 1112 1 in 1556 1 in 1952 1 in 3496 1 in 2144 1 in 324	1 in 1666 1 in 2334 1 in 2928 1 in 5244 1 in 3216 1 in 10800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NRL	Retinal degeneration, autosomal recessive, clumped pigment type	Autosomal recessive*	General population	≤1 in 500	<1 in 643	<1 in 1,000,000	<1 in 1,000,000	<1 in 2573	<1 in 2000	<1 in 2573	1 in 4
NRXN1	Pitt-Hopkins-like syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
NSDHL	CHILD syndrome	X-linked	General population	≤1 in 500	<1 in 1416666	<1 in 1,000,000	-	-	1 in 4	-	-
NSMCE2	Seckel syndrome, type 10	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NSMCE3	Lung disease, immunodeficiency, and chromosome breakage syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NSUN2	Mental retardation, autosomal recessive, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
NT5C2	Spastic paraplegia 45, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NT5C3A	Anemia, hemolytic, due to UMPH1 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 5496	<1 in 1,000,000	<1 in 1,000,000	<1 in 21982	<1 in 2000	<1 in 21982	1 in 4
NT5E	Calcification of joints and arteries	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
NTHL1	Familial adenomatous polyposis, type 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NTRK1	Insensitivity to pain, congenital, with anhidrosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,122 1 in 713 1 in 280 1 in 3539 1 in 2105 <1 in 500	1 in 1,974 1 in 1255 1 in 493 1 in 6229 1 in 3705 1 in 60900	<1 in 1,000,000 <1 in 1,000,000 1 in 551936 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 971407 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7896 1 in 5020 1 in 1971 1 in 24915 1 in 14819 1 in 243600	1 in 4488 1 in 2852 1 in 1120 1 in 14156 1 in 8420 1 in 7308	1 in 7896 1 in 5020 1 in 1971 1 in 24915 1 in 14819 1 in 243600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
NUBPL	Mitochondrial complex I deficiency, nuclear type 21	Autosomal recessive	General population	≤1 in 500	<1 in 917	<1 in 1,000,000	<1 in 1,000,000	<1 in 3667	<1 in 2000	<1 in 3667	1 in 4
NUP107	Nephrotic syndrome, type 11	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NUP62	Striatonigral degeneration, infantile	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
NUP93	Nephrotic syndrome, type 12	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
NYX	Night blindness, congenital stationary (complete), type 1A, X-linked	X-linked	General population	≤1 in 500	<1 in 600000	<1 in 1,000,000	-	-	1 in 4	-	-
OAT	Gyrate atrophy of choroid and retina	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 749 1 in 2898 N/A 1 in 905 1 in 1291 1 in 615 1 in 177	1 in 5,071 1 in 19642 N/A 1 in 6134 1 in 8750 1 in 20500 1 in 5900	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 20283 1 in 78568 N/A 1 in 24536 1 in 35000 1 in 82000 1 in 23600	1 in 2996 1 in 11592 N/A 1 in 3620 1 in 5164 1 in 2460 1 in 708	1 in 20283 1 in 78568 N/A 1 in 24536 1 in 35000 1 in 82000 1 in 23600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OBSL1	3M syndrome 2	Autosomal recessive	Caucasian/European population	1 in 103	1 in 273	1 in 112476	1 in 298116	1 in 1092	1 in 412	1 in 1092	1 in 4
OCA2	Oculocutaneous albinism type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 101 N/A N/A N/A N/A	1 in 204 N/A N/A N/A N/A	1 in 82071 N/A N/A N/A N/A	1 in 166710 N/A N/A N/A N/A	1 in 817 N/A N/A N/A N/A	1 in 402 N/A N/A N/A N/A	1 in 817 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OCLN	Pseudo-TORCH syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
OCRL	Lowe Syndrome; Dent disease type 2	X-linked	General African/African American East Asian South Asian Latino	1 in 357,144 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ODAD1	Ciliary dyskinesia, primary, 20	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ODAD2	Ciliary dyskinesia, primary, 23	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ODAD3	Ciliary dyskinesia, primary, 30	Autosomal recessive	General Population	1 in 365	Reduced	Reduced	Reduced	Reduced	1 in 1460	Reduced	1 in 4
ODAD4	Ciliary dyskinesia, primary, 35	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ODAPH	Amelogenesis imperfecta, type 2A4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
OFD1	Orofaciodigital syndrome, type 1; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome, type 10	X-linked	General population	≤1 in 500	<1 in 1112717	<1 in 1,000,000	-	-	1 in 4	-	-
OGDH	Alpha-ketoglutarate dehydrogenase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
OGT	Mental retardation, X-linked 106	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
OPA1	Behr syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1284	<1 in 1,000,000	<1 in 1,000,000	<1 in 5135	<1 in 2000	<1 in 5135	1 in 4
OPA3	3-methylglutaconic aciduria, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 4,808 1 in 500 N/A N/A 1 in 3349 N/A 1 in 12	1 in 6,010 1 in 625 N/A N/A 1 in 4186 N/A 1 in 400	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 N/A 1 in 19200	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 N/A 1 in 640000	1 in 24039 1 in 2500 N/A N/A 1 in 16745 N/A 1 in 1600	1 in 19232 1 in 2000 N/A N/A 1 in 13396 N/A 1 in 48	1 in 24039 1 in 2500 N/A N/A 1 in 16745 N/A 1 in 1600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OPHN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
OPN1LW	Blue cone monochromacy	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
OPN1MW	Blue cone monochromacy	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
OPTN	Amyotrophic lateral sclerosis, type 12	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
ORAI1	Immunodeficiency 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ORC1	Meier-Gorlin syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 2249	<1 in 1,000,000	<1 in 1,000,000	<1 in 8995	<1 in 2000	<1 in 8995	1 in 4
ORC4	Meier-Gorlin syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
ORC6	Meier-Gorlin syndrome, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
OSGEP	Galloway-Mowat syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
OSTM1	Osteopetrosis, autosomal recessive type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 6,173 N/A 1 in 9197 1 in 6619 N/A	1 in 9,259 N/A 1 in 13796 1 in 9929 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	<1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A	1 in 37036 N/A 1 in 55182 1 in 39714 N/A	1 in 24692 N/A 1 in 36788 1 in 26476 N/A	1 in 37036 N/A 1 in 55182 1 in 39714 N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OTC	Ornithine transcarbamylase deficiency	X-linked	General African/African American East Asian South Asian Latino	1 in 37,667 1 in 35000 N/A N/A 1 in 35000	<1 in 96,000 1 in 89077 N/A N/A 1 in 89077	1 in 383453 1 in 356306 N/A N/A 1 in 356306	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
OTOA	Deafness, autosomal recessive type 22	Autosomal recessive	General population	≤1 in 500	<1 in 1071	<1 in 1,000,000	<1 in 1,000,000	<1 in 4285	<1 in 2000	<1 in 4285	1 in 4
OTOF	Deafness, autosomal recessive, type 9	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 228 1 in 258 1 in 52 1 in 240 1 in 201	1 in 22,701 1 in 25800 1 in 5200 1 in 24000 1 in 20100	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 90804 1 in 103200 1 in 20800 1 in 96000 1 in 80400	1 in 912 1 in 1032 1 in 208 1 in 960 1 in 804	1 in 90804 1 in 103200 1 in 20800 1 in 96000 1 in 80400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
OTOG	Deafness, autosomal recessive 18B	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
OTOGL	Deafness, autosomal recessive 84B	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
OTUD6B	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
OTULIN	Autoinflammation, panniculitis, and dermatosis syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
P2RY12	Bleeding disorder, platelet-type, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
P3H1	Osteogenesis imperfecta, type 8	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 567 1 in 278 1 in 206 1 in 765 1 in 136	1 in 1,447 1 in 710 1 in 526 1 in 1955 1 in 348	<1 in 1,000,000 1 in 790014 1 in 433790 <1 in 1,000,000 1 in 189070	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 483179	1 in 5790 1 in 2842 1 in 2106 1 in 7820 1 in 1390	1 in 2268 1 in 1112 1 in 824 1 in 3060 1 in 544	1 in 5790 1 in 2842 1 in 2106 1 in 7820 1 in 1390	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
P3H2	Myopia, high, with cataract and vitreoretinal degeneration	Autosomal recessive	General population	≤1 in 500	<1 in 723	<1 in 1,000,000	<1 in 1,000,000	<1 in 2890	<1 in 2000	<1 in 2890	1 in 4
PADI3	Uncombable hair syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PADI6	Preimplantation embryonic lethality 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PAH	Phenylketonuria	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 51 1 in 143 1 in 68 1 in 121 1 in 70 ≤1 in 17	1 in 1,239 1 in 3575 1 in 1700 1 in 3025 1 in 1750 1 in 1052	1 in 250228 <1 in 1,000,000 1 in 462400 <1 in 1,000,000 1 in 490000 1 in 132814	1 in 6136780 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4955 1 in 14300 1 in 6800 1 in 12100 1 in 7000 1 in 4208	1 in 202 1 in 572 1 in 272 1 in 484 1 in 280 1 in 126	1 in 1324 1 in 14300 1 in 6800 1 in 12100 1 in 7000 1 in 4208	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PAK3	Mental retardation, X-linked, type 30	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 90,000 N/A N/A N/A N/A	1 in 359996 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PALB2	Fanconi anemia, complementation group N	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PANK2	Neurodegeneration with brain iron accumulation type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 700 1 in 845 1 in 655 1 in 427 1 in 1027	1 in 1,175 1 in 1420 1 in 1100 1 in 717 1 in 1725	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4701 1 in 5678 1 in 4402 1 in 2869 1 in 6901	1 in 2800 1 in 3380 1 in 2620 1 in 1708 1 in 4108	1 in 4701 1 in 5678 1 in 4402 1 in 2869 1 in 6901	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PAPSS2	Brachyolmia, type 4, with mild epiphyseal and metaphyseal changes	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
PARK7	Parkinson disease, type 7, autosomal recessive, early-onset	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
PARN	Dyskeratosis congenita, autosomal recessive 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PATL2	Oocyte maturation defect 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PAX7	Rhabdomyosarcoma 2, alveolar	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PC	Pyruvate carboxylase deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 251 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 637368 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 2544 N/A N/A N/A N/A	1 in 1002 N/A N/A N/A N/A	1 in 2544 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCARE	Retinitis pigmentosa, type 54	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PCBD1	Hyperphenylalaninemia, BH4-deficient, type D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 984 1 in 1306 1 in 1314 1 in 7638 1 in 169	1 in 1,312 1 in 1741 1 in 1752 1 in 10184 1 in 225	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 152325	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 203100	1 in 5247 1 in 6965 1 in 7008 1 in 40736 1 in 901	1 in 3936 1 in 5224 1 in 5256 1 in 30552 1 in 676	1 in 5247 1 in 6965 1 in 7008 1 in 40736 1 in 901	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCCA	Propionic acidemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 636 1 in 393 1 in 419 1 in 507 1 in 429	1 in 1,237 1 in 765 1 in 816 1 in 987 1 in 835	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4948 1 in 3060 1 in 3262 1 in 3947 1 in 3340	1 in 2544 1 in 1572 1 in 1676 1 in 2028 1 in 1716	1 in 4948 1 in 3060 1 in 3262 1 in 3947 1 in 3340	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCCB	Propionic acidemia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 635 1 in 257 1 in 192 1 in 1490 1 in 688	1 in 1,816 1 in 736 1 in 550 1 in 4265 1 in 1969	<1 in 1,000,000 1 in 756163 1 in 422038 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7262 1 in 2942 1 in 2198 1 in 17058 1 in 7877	1 in 2540 1 in 1028 1 in 768 1 in 5960 1 in 2752	1 in 7262 1 in 2942 1 in 2198 1 in 17058 1 in 7877	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCDH12	Microcephaly, seizures, spasticity, and brain calcification	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PCDH15	Deafness, autosomal recessive, type 23; Usher syndrome, type 1D/F digenic	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 497 1 in 548 1 in 191 1 in 805 1 in 545 ≤1 in 72	1 in 1,034 1 in 1142 1 in 398 1 in 1677 1 in 1135 1 in 381	<1 in 1,000,000 <1 in 1,000,000 1 in 304008 <1 in 1,000,000 <1 in 1,000,000 1 in 145386	<1 in 1,000,000 <1 in 1,000,000 1 in 633351 <1 in 1,000,000 <1 in 1,000,000 1 in 581546	1 in 4137 1 in 4567 1 in 1592 1 in 6708 1 in 4542 1 in 1525	1 in 1988 1 in 2192 1 in 764 1 in 3220 1 in 2180 1 in 381	1 in 4137 1 in 4567 1 in 1592 1 in 6708 1 in 4542 1 in 1525	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PCDH19	Epileptic encephalopathy, early infantile, type 9	X-linked	General population	≤1 in 500	<1 in 646342	<1 in 1,000,000	-	-	1 in 4	-	-
PCK2	PEPCK deficiency, mitochondrial	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PCNT	Microcephalic osteodysplastic primordial dwarfism, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1588	<1 in 1,000,000	<1 in 1,000,000	<1 in 6351	<1 in 2000	<1 in 6351	1 in 4
PCSK1	Obesity with impaired prohormone processing	Autosomal recessive	General population	≤1 in 500	<1 in 584	<1 in 1,000,000	<1 in 1,000,000	<1 in 2335	<1 in 2000	<1 in 2335	1 in 4
PCYT1A	Spondylometaphyseal dysplasia with cone-rod dystrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PDE10A	Dyskinesia, limb and orofacial, infantile-onset	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
PDE6A	Retinitis pigmentosa type 43	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 863 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3452 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 3452 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PDE6B	Retinitis pigmentosa type 40	Autosomal recessive	General population	≤1 in 500	<1 in 783	<1 in 1,000,000	<1 in 1,000,000	<1 in 3131	<1 in 2000	<1 in 3131	1 in 4
PDE6C	Cone dystrophy type 4	Autosomal recessive	General population	≤1 in 500	<1 in 1305	<1 in 1,000,000	<1 in 1,000,000	<1 in 5221	<1 in 2000	<1 in 5221	1 in 4
PDE6G	Retinitis pigmentosa type 57	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
PDE6H	Retinal cone dystrophy 3 and achromatopsia 6	Autosomal recessive*	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency	X-linked	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PDHB	Pyruvate dehydrogenase E1-beta deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,529 1 in 1352 1 in 9197 1 in 1797 1 in 8128	1 in 4,214 1 in 2253 1 in 15328 1 in 2995 1 in 13547	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16857 1 in 9013 1 in 61313 1 in 11980 1 in 54187	1 in 10116 1 in 5408 1 in 36788 1 in 7188 1 in 32512	1 in 16857 1 in 9013 1 in 61313 1 in 11980 1 in 54187	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PDHX	Lacticacidemia due to PDX1 deficiency	Autosomal recessive	Caucasian/European population	1 in 1524	1 in 3301	<1 in 1,000,000	<1 in 1,000,000	1 in 13203	1 in 6096	1 in 13203	1 in 4
PDP1	Pyruvate dehydrogenase phosphatase deficiency	Autosomal recessive	Caucasian/European population	1 in 4651	1 in 13951	<1 in 1,000,000	<1 in 1,000,000	1 in 55804	1 in 18604	1 in 55804	1 in 4
PDSS1	Coenzyme Q10 deficiency, primary, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
PDSS2	Coenzyme Q10 deficiency, primary, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
PDX1	Pancreatic agenesis type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
PDXK	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PDZD7	Deafness, autosomal recessive, type 57; Usher syndrome, type 2C, digenic	Autosomal recessive; Digenic inheritance (ADGRV1 gene)	General population	≤1 in 500	<1 in 800	<1 in 1,000,000	<1 in 1,000,000	<1 in 3201	<1 in 2000	<1 in 3201	1 in 4
PEPD	Prolidase deficiency	Autosomal recessive	General population	1 in 500	1 in 1213	<1 in 1,000,000	<1 in 1,000,000	1 in 4851	1 in 2000	1 in 4851	1 in 4
PET100	Mitochondrial complex IV deficiency	Autosomal recessive	General population	1 in 500	Reduced	Reduced	Reduced	Reduced	1 in 2000	Reduced	1 in 4
PEX1	Heimler syndrome type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 191 1 in 366 1 in 153 1 in 556 1 in 601	1 in 19,000 1 in 36600 1 in 15300 1 in 55600 1 in 60100	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 76004 1 in 146400 1 in 61200 1 in 222400 1 in 240400	1 in 764 1 in 1464 1 in 612 1 in 2224 1 in 2404	1 in 76004 1 in 146400 1 in 61200 1 in 222400 1 in 240400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX10	Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,287 1 in 952 1 in 2025 1 in 917 1 in 3744	1 in 4,245 1 in 3142 1 in 6683 1 in 3026 1 in 12355	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 16979 1 in 12566 1 in 26730 1 in 12104 1 in 49421	1 in 5148 1 in 3808 1 in 8100 1 in 3668 1 in 14976	1 in 16979 1 in 12566 1 in 26730 1 in 12104 1 in 49421	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX11B	?Peroxisome biogenesis disorder 14B	Autosomal recessive	Caucasian/European population	1 in 1419	Reduced	Reduced	Reduced	Reduced	1 in 5676	Reduced	1 in 4
PEX12	Peroxisome biogenesis disorder type 3A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 718 1 in 527 1 in 2875 1 in 1278 1 in 552	1 in 71,701 1 in 52700 1 in 287500 1 in 127800 1 in 55200	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 286804 1 in 210800 <1 in 1,000,000 1 in 511200 1 in 220800	1 in 2872 1 in 2108 1 in 11500 1 in 5112 1 in 2208	1 in 286804 1 in 210800 <1 in 1,000,000 1 in 511200 1 in 220800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX13	Peroxisome biogenesis disorder, type 11A (Zellweger syndrome); Peroxisome biogenesis disorder, type 11B	Autosomal recessive	Caucasian/European population	1 in 5185	1 in 31105	<1 in 1,000,000	<1 in 1,000,000	1 in 124420	1 in 20740	1 in 124420	1 in 4
PEX14	Peroxisome biogenesis disorder, type 13A (Zellweger syndrome)	Autosomal recessive	Caucasian/European population	1 in 8009	1 in 16017	<1 in 1,000,000	<1 in 1,000,000	1 in 64068	1 in 32036	1 in 64068	1 in 4
PEX16	Peroxisome biogenesis disorder, type 8A (Zellweger syndrome); Peroxisome biogenesis disorder, type 8B	Autosomal recessive	Caucasian/European population	1 in 3165	1 in 4747	<1 in 1,000,000	<1 in 1,000,000	1 in 18988	1 in 12660	1 in 18988	1 in 4
PEX19	Peroxisome biogenesis disorder, type 12A (Zellweger syndrome)	Autosomal recessive	Caucasian/European population	1 in 1921	1 in 3841	<1 in 1,000,000	<1 in 1,000,000	1 in 15364	1 in 7684	1 in 15364	1 in 4
PEX2	Peroxisome biogenesis disorder type 5A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,542 1 in 1741 1 in 2156 1 in 1922 1 in 2798 ≤1 in 123	1 in 6,165 1 in 6964 1 in 8624 1 in 7688 1 in 11192 1 in 5318	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 24660 1 in 27856 1 in 34496 1 in 30752 1 in 44768 1 in 21273	1 in 6168 1 in 6964 1 in 8624 1 in 7688 1 in 11192 1 in 638	1 in 24660 1 in 27856 1 in 34496 1 in 30752 1 in 44768 1 in 21273	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX26	Peroxisome biogenesis disorder type 7A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 996 1 in 691 1 in 263 1 in 1860 1 in 271	1 in 1,659 1 in 1152 1 in 438 1 in 3100 1 in 452	<1 in 1,000,000 <1 in 1,000,000 1 in 461127 <1 in 1,000,000 1 in 489607	<1 in 1,000,000 <1 in 1,000,000 1 in 768544 <1 in 1,000,000 1 in 816011	1 in 6637 1 in 4607 1 in 1753 1 in 12400 1 in 1807	1 in 3984 1 in 2764 1 in 1052 1 in 7440 1 in 1084	1 in 6637 1 in 4607 1 in 1753 1 in 12400 1 in 1807	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX3	Peroxisome biogenesis disorder, type 10A (Zellweger syndrome)	Autosomal recessive	Caucasian/European population	1 in 2968	1 in 4452	<1 in 1,000,000	<1 in 1,000,000	1 in 17806	1 in 11872	1 in 17806	1 in 4
PEX5	Peroxisome biogenesis disorder type 2A (Zellweger)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 914 1 in 2460 1 in 202 1 in 1024 1 in 1937	1 in 2,010 1 in 5412 1 in 444 1 in 2253 1 in 4261	<1 in 1,000,000 <1 in 1,000,000 1 in 359075 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 789965 <1 in 1,000,000 <1 in 1,000,000	1 in 8038 1 in 21648 1 in 1778 1 in 9011 1 in 17046	1 in 3656 1 in 9840 1 in 808 1 in 4096 1 in 7748	1 in 8038 1 in 21648 1 in 1778 1 in 9011 1 in 17046	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX6	Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2	Autosomal recessive; Autosomal recessive*; Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 83 1 in 268 1 in 595 1 in 105 1 in 239 1 in 252	1 in 216 1 in 702 1 in 1558 1 in 275 1 in 626 1 in 843	1 in 71633 1 in 752442 <1 in 1,000,000 1 in 115500 1 in 598410 1 in 853453	1 in 186213 <1 in 1,000,000 <1 in 1,000,000 1 in 302500 <1 in 1,000,000 <1 in 1,000,000	1 in 863 1 in 2808 1 in 6233 1 in 1100 1 in 2504 1 in 3373	1 in 332 1 in 1072 1 in 2380 1 in 420 1 in 956 1 in 1012	1 in 863 1 in 2808 1 in 6233 1 in 1100 1 in 2504 1 in 3373	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PEX7	Rhizomelic chondrodysplasia punctata, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 371 1 in 491 1 in 552 1 in 2285 1 in 485	1 in 1,032 1 in 1368 1 in 1538 1 in 6365 1 in 1351	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4127 1 in 5471 1 in 6151 1 in 25461 1 in 5404	1 in 1484 1 in 1964 1 in 2208 1 in 9140 1 in 1940	1 in 4127 1 in 5471 1 in 6151 1 in 25461 1 in 5404	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PFKM	Glycogen storage disease, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 868 1 in 647 1 in 488 1 in 1165 1 in 62 ≤1 in 108	1 in 1,843 1 in 1375 1 in 1037 1 in 2476 1 in 132 1 in 5028	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 32674 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 69432 <1 in 1,000,000	1 in 7374 1 in 5500 1 in 4148 1 in 9903 1 in 527 1 in 20112	1 in 3472 1 in 2588 1 in 1952 1 in 4660 1 in 248 1 in 603	1 in 7374 1 in 5500 1 in 4148 1 in 9903 1 in 527 1 in 20112	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PGAM2	Glycogen storage disease X	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PGAP1	Mental retardation, autosomal recessive 42	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PGAP2	Hyperphosphatasia with mental retardation syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PGAP3	Hyperphosphatasia with mental retardation syndrome 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PGK1	Phosphoglycerate kinase 1 deficiency	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PGM1	Congenital disorder of glycosylation, type 1t	Autosomal recessive	General population	<1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
PGM3	Immunodeficiency 23	Autosomal recessive	Caucasian/European population	1 in 801	Reduced	Reduced	Reduced	Reduced	1 in 3204	Reduced	1 in 4
PHEX	Hypophosphatemic rickets, X-linked dominant	X-linked	General population	≤1 in 500	<1 in 910714	<1 in 1,000,000	-	-	1 in 4	-	-
PHF6	Borjeson-Forssman-Lehmann syndrome	X-linked	General population	≤1 in 500	<1 in 700000	<1 in 1,000,000	-	-	1 in 4	-	-
PHF8	Mental retardation syndrome, X-linked, Siderius type	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	1 in 916,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PHGDH	Neu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 631 1 in 1639 1 in 1232 1 in 1665 1 in 1311 ≤1 in 280	1 in 3,361 1 in 8741 1 in 6571 1 in 8880 1 in 6992 1 in 11536	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13444 1 in 34965 1 in 26283 1 in 35520 1 in 27968 1 in 46145	1 in 2524 1 in 6556 1 in 4928 1 in 6660 1 in 5244 1 in 1384	1 in 13444 1 in 34965 1 in 26283 1 in 35520 1 in 27968 1 in 46145	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PHKA1	Glycogen storage disease, type 9D	X-linked	General population	≤1 in 500	<1 in 833334	<1 in 1,000,000	-	-	1 in 4	-	-
PHKA2	Glycogen storage disease, type 9A1 and type 9A2	X-linked	General population	≤1 in 500	<1 in 720931	<1 in 1,000,000	-	-	1 in 4	-	-
PHKB	Glycogen storage disease, type 9B	Autosomal recessive	Caucasian/European population	1 in 310	1 in 681	1 in 844192	<1 in 1,000,000	1 in 2723	1 in 1240	1 in 2723	1 in 4
PHKG2	Glycogen storage disease type 9c	Autosomal recessive	Caucasian/European population	1 in 476	1 in 856	<1 in 1,000,000	<1 in 1,000,000	1 in 3424	1 in 1904	1 in 3424	1 in 4
PHOX2A	Fibrosis of extraocular muscles, congenital, 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PHYH	Refsum disease	Autosomal recessive	General population	≤1 in 500	<1 in 1357	<1 in 1,000,000	<1 in 1,000,000	<1 in 5427	<1 in 2000	<1 in 5427	1 in 4
PI4KA	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIBF1	Joubert syndrome 33	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIEZO1	Lymphedema, hereditary, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 516	<1 in 1,000,000	<1 in 1,000,000	<1 in 2063	<1 in 2000	<1 in 2063	1 in 4
PIEZO2	Arthrogryposis, distal, with impaired proprioception and touch	Autosomal recessive	General population	≤1 in 500	<1 in 723	<1 in 1,000,000	<1 in 1,000,000	<1 in 2890	<1 in 2000	<1 in 2890	1 in 4
PIGA	Multiple congenital anomalies-hypotonia-seizures syndrome, type 2	X-linked	General population	≤1 in 500	<1 in 750000	<1 in 1,000,000	-	-	1 in 4	-	-
PIGC	Glycosylphosphatidylinositol biosynthesis defect 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIGG	Mental retardation, autosomal recessive 53	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIGL	Zunich neuroectodermal syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 3498	<1 in 1,000,000	<1 in 1,000,000	<1 in 13990	<1 in 2000	<1 in 13990	1 in 4
PIGM	Glycosylphosphatidylinositol deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 705	<1 in 1,000,000	<1 in 1,000,000	<1 in 2822	<1 in 2000	<1 in 2822	1 in 4
PIGO	Hyperphosphatasia with mental retardation syndrome 2	Autosomal recessive	General population	≤1 in 500	<1 in 696	<1 in 1,000,000	<1 in 1,000,000	<1 in 2784	<1 in 2000	<1 in 2784	1 in 4
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIGV	Hyperphosphatasia with mental retardation syndrome 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIGW	Glycosylphosphatidylinositol biosynthesis defect 11	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIGY	Hyperphosphatasia with mental retardation syndrome 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PIK3R5	Ataxia-oculomotor apraxia 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PINK1	Parkinson disease, type 6, early onset	Autosomal recessive	General population	≤1 in 500	<1 in 1357	<1 in 1,000,000	<1 in 1,000,000	<1 in 5427	<1 in 2000	<1 in 5427	1 in 4
PIP5K1C	Lethal congenital contractural syndrome, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
PJVK	Deafness, autosomal recessive type 59	Autosomal recessive	General population	≤1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
PKD1L1	Heterotaxy, visceral, 8, autosomal	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PKHD1	Polycystic kidney disease type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 66 1 in 66 1 in 119 1 in 154 1 in 99 1 in 106	1 in 266 1 in 269 1 in 485 1 in 628 1 in 404 1 in 3533	1 in 70204 1 in 71016 1 in 230867 1 in 386643 1 in 159786 <1 in 1,000,000	1 in 282863 1 in 289444 1 in 940959 <1 in 1,000,000 1 in 651249 <1 in 1,000,000	1 in 1064 1 in 1076 1 in 1940 1 in 2511 1 in 1614 1 in 14133	1 in 264 1 in 264 1 in 476 1 in 616 1 in 396 1 in 424	1 in 1064 1 in 1076 1 in 1940 1 in 2511 1 in 1614 1 in 14133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PKLR	Pyruvate kinase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 917	<1 in 1,000,000	<1 in 1,000,000	<1 in 3667	<1 in 2000	<1 in 3667	1 in 4
PKP1	Ectodermal dysplasia/skin fragility syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
PLA2G6	Infantile neuroaxonal dystrophy type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 343 1 in 530 1 in 251 1 in 60 1 in 214	1 in 856 1 in 1325 1 in 628 1 in 150 1 in 535	<1 in 1,000,000 <1 in 1,000,000 1 in 630010 1 in 36000 1 in 457960	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 90000 <1 in 1,000,000	1 in 3424 1 in 5300 1 in 2510 1 in 600 1 in 2140	1 in 1372 1 in 2120 1 in 1004 1 in 240 1 in 856	1 in 3424 1 in 5300 1 in 2510 1 in 600 1 in 2140	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PLA2G7	Platelet-activating factor acetylhydrolase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PLAA	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PLCB1	Epileptic encephalopathy, early infantile, type 12	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
PLCB4	Auriculocondylar syndrome, type 2	Autosomal recessive*	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
PLCD1	Nail disorder, nonsyndromic congenital, type 3 (leukonychia)	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
PLCE1	Nephrotic syndrome, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1416	<1 in 1,000,000	<1 in 1,000,000	<1 in 5665	<1 in 2000	<1 in 5665	1 in 4
PLD1	Cardiac valvular defect, developmental	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PLEC	Epidermolysis bullosa simplex with muscular dystrophy	Autosomal recessive	General population	<1 in 500	<1 in 1264	<1 in 1,000,000	<1 in 1,000,000	<1 in 5058	<1 in 2000	<1 in 5058	1 in 4
PLEKHG2	Leukodystrophy and acquired microcephaly with or without dystonia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PLEKHG5	Charcot-Marie-Tooth disease, recessive intermediate C	Autosomal recessive	Caucasian/European population	1 in 693	1 in 1846	<1 in 1,000,000	<1 in 1,000,000	1 in 7385	1 in 2772	1 in 7385	1 in 4
PLG	Plasminogen deficiency, type I	Autosomal recessive	General population	≤1 in 500	<1 in 2998	<1 in 1,000,000	<1 in 1,000,000	<1 in 11992	<1 in 2000	<1 in 11992	1 in 4
PLK4	Microcephaly and chorioretinopathy, autosomal recessive, 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 299 N/A N/A N/A N/A	1 in 189844 N/A N/A N/A N/A	1 in 358133 N/A N/A N/A N/A	1 in 1197 N/A N/A N/A N/A	1 in 634 N/A N/A N/A N/A	1 in 1197 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PLOD2	Bruck syndrome 2	Autosomal recessive	Caucasian/European population	1 in 1400	1 in 2519	<1 in 1,000,000	<1 in 1,000,000	1 in 10077	1 in 5600	1 in 10077	1 in 4
PLOD3	Lysyl hydroxylase 3 deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
PLP1	Pelizaeus-Merzbacher disease	X-linked	General African/African American East Asian South Asian Latino	1 in 91,838 N/A N/A N/A N/A	1 in 113,109 N/A N/A N/A N/A	1 in 452435 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PLPBP	Epilepsy, early-onset, vitamin B6-dependent	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PLS3	Bone mineral density QTL18, osteoporosis	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
PMM2	Congenital disorder of glycosylation, type 1A	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 71 1 in 245 1 in 133 1 in 278 1 in 114 1 in 61	1 in 7,022 1 in 24500 1 in 13300 1 in 27800 1 in 11400 1 in 2033	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 496133	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 28090 1 in 98000 1 in 53200 1 in 111200 1 in 45600 1 in 8133	1 in 285 1 in 980 1 in 532 1 in 1112 1 in 456 1 in 244	1 in 28090 1 in 98000 1 in 53200 1 in 111200 1 in 45600 1 in 8133	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PMP22	Dejerine-Sottas disease	Autosomal recessive*	General population	≤1 in 500	<1 in 978	<1 in 1,000,000	<1 in 1,000,000	<1 in 3913	<1 in 2000	<1 in 3913	1 in 4
PMPCA	Spinocerebellar ataxia, autosomal recessive, type 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PMPCB	Multiple mitochondrial dysfunctions syndrome 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PNKP	Ataxia-oculomotor apraxia, type 4; Microcephaly, seizures, and developmental delay	Autosomal recessive	General population	≤1 in 500	<1 in 778	<1 in 1,000,000	<1 in 1,000,000	<1 in 3112	<1 in 2000	<1 in 3112	1 in 4
PNP	Immunodeficiency due to purine nucleoside phosphorylase deficiency	Autosomal recessive	Caucasian/European population	1 in 1145	1 in 4196	<1 in 1,000,000	<1 in 1,000,000	1 in 16783	1 in 4580	1 in 16783	1 in 4
PNPLA1	Ichthyosis, congenital, autosomal recessive, type 10	Autosomal recessive	Caucasian/European population	1 in 1456	1 in 1747	<1 in 1,000,000	<1 in 1,000,000	1 in 6988	1 in 5824	1 in 6988	1 in 4
PNPLA2	Neutral lipid storage disease with myopathy	Autosomal recessive	General population	≤1 in 500	<1 in 1214	<1 in 1,000,000	<1 in 1,000,000	<1 in 4856	<1 in 2000	<1 in 4856	1 in 4
PNPLA6	Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome; Spastic paraplegia, type 39, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 972	<1 in 1,000,000	<1 in 1,000,000	<1 in 3889	<1 in 2000	<1 in 3889	1 in 4
PNPO	Pyridoxamine 5'-phosphate oxidase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,107 1 in 1846 1 in 1484 1 in 1920 1 in 386	1 in 3,983 1 in 6646 1 in 5342 1 in 6912 1 in 1390	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15930 1 in 26582 1 in 21370 1 in 27648 1 in 5558	1 in 4428 1 in 7384 1 in 5936 1 in 7680 1 in 1544	1 in 15930 1 in 26582 1 in 21370 1 in 27648 1 in 5558	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PNPT1	Combined oxidative phosphorylation deficiency 13	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
POC1A	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
POC1B	Cone-rod dystrophy 20	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
POLA1	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
POLE	FILS syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
POLG	POLG-related disorders	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 194 N/A N/A N/A N/A	1 in 340 N/A N/A N/A N/A	1 in 264146 N/A N/A N/A N/A	1 in 462328 N/A N/A N/A N/A	1 in 1360 N/A N/A N/A N/A	1 in 777 N/A N/A N/A N/A	1 in 1360 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POLH	Xeroderma pigmentosum, variant type	Autosomal recessive	Caucasian/European population	1 in 1002	1 in 3254	<1 in 1,000,000	<1 in 1,000,000	1 in 13017	1 in 4008	1 in 13017	1 in 4
POLR1C	Leukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 1,021 N/A N/A N/A N/A	1 in 1,659 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6635 N/A N/A N/A N/A	1 in 4084 N/A N/A N/A N/A	1 in 6635 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POLR1D	Treacher Collins syndrome, type 2	Autosomal recessive*	General population	1 in 457	1 in 522	1 in 954210	<1 in 1,000,000	1 in 2088	1 in 1828	1 in 2088	1 in 4
POLR3A	Leukodystrophy, hypomyelinating, type 7	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
POLR3B	Leukodystrophy, hypomyelinating, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
POMC	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
POMGNT1	Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 315 1 in 674 1 in 581 1 in 727 1 in 544	1 in 31,401 1 in 67400 1 in 58100 1 in 72700 1 in 54400	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 125604 1 in 269600 1 in 232400 1 in 290800 1 in 217600	1 in 1260 1 in 2696 1 in 2324 1 in 2908 1 in 2176	1 in 125604 1 in 269600 1 in 232400 1 in 290800 1 in 217600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POMGNT2	Muscular dystrophy-dystroglycanopathy, type 8A (Walker-Warburg syndrome); Type 8C (limb-girdle muscular dystrophy, type 24 [LGMD R24])	Autosomal recessive	General population	≤1 in 500	<1 in 546	<1 in 1,000,000	<1 in 1,000,000	<1 in 2184	<1 in 2000	<1 in 2184	1 in 4
POMK	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
POMP	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
POMT1	Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 372 1 in 390 1 in 458 1 in 427 1 in 535	1 in 1,708 1 in 1794 1 in 2107 1 in 1964 1 in 2461	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6830 1 in 7176 1 in 8427 1 in 7857 1 in 9844	1 in 1488 1 in 1560 1 in 1832 1 in 1708 1 in 2140	1 in 6830 1 in 7176 1 in 8427 1 in 7857 1 in 9844	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POMT2	Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 833 1 in 908 1 in 1274 1 in 833 1 in 267	1 in 7,281 1 in 7945 1 in 11148 1 in 7289 1 in 2336	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 29124 1 in 31780 1 in 44590 1 in 29155 1 in 9345	1 in 3332 1 in 3632 1 in 5096 1 in 3332 1 in 1068	1 in 29124 1 in 31780 1 in 44590 1 in 29155 1 in 9345	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POP1	Anauxetic dysplasia, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 268 1 in 278 1 in 105 1 in 417 1 in 563	1 in 1,069 1 in 1112 1 in 420 1 in 1668 1 in 2252	<1 in 1,000,000 <1 in 1,000,000 1 in 176400 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 705600 <1 in 1,000,000 <1 in 1,000,000	1 in 4276 1 in 4448 1 in 1680 1 in 6672 1 in 9008	1 in 1072 1 in 1112 1 in 420 1 in 1668 1 in 2252	1 in 4276 1 in 4448 1 in 1680 1 in 6672 1 in 9008	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PORCN	Focal dermal hypoplasia	X-linked	General population	≤1 in 500	<1 in 718750	<1 in 1,000,000	-	-	1 in 4	-	-
POU1F1	Pituitary hormone deficiency, combined, type 1	Autosomal recessive*	General African/African American East Asian South Asian Latino	1 in 32 N/A N/A N/A N/A	1 in 126 N/A N/A N/A N/A	1 in 16133 N/A N/A N/A N/A	1 in 63024 N/A N/A N/A N/A	1 in 502 N/A N/A N/A N/A	1 in 129 N/A N/A N/A N/A	1 in 502 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
POU3F4	Deafness, X-linked type 2 (DFNX2)	X-linked	General African/African American East Asian South Asian Latino	1 in 556,112 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PPA2	Sudden cardiac failure, infantile	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PPIB	Osteogenesis imperfecta, type 9	Autosomal recessive	Caucasian/European population	1 in 2688	1 in 10749	<1 in 1,000,000	<1 in 1,000,000	1 in 42996	1 in 10752	1 in 42996	1 in 4
PPM1K	?Maple syrup urine disease, mild variant	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PPP1R15B	Microcephaly, short stature, and impaired glucose metabolism 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PPT1	Ceroid lipofuscinosis, neuronal, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 488 1 in 628 1 in 918 1 in 641 1 in 1901	1 in 2,165 1 in 2791 1 in 4080 1 in 2849 1 in 8449	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 8662 1 in 11164 1 in 16320 1 in 11396 1 in 33796	1 in 1952 1 in 2512 1 in 3672 1 in 2564 1 in 7604	1 in 8662 1 in 11164 1 in 16320 1 in 11396 1 in 33796	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PQBP1	Renpenning syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	1 in 107,142 N/A N/A N/A N/A	1 in 428567 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PRCD	Retinitis pigmentosa, type 36	Autosomal recessive	Caucasian/European population	1 in 627	1 in 784	<1 in 1,000,000	<1 in 1,000,000	1 in 3134	1 in 2508	1 in 3134	1 in 4
PRDM12	Neuropathy, hereditary sensory and autonomic, type VIII	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PRDM5	Brittle cornea syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 1952	1 in 5854	<1 in 1,000,000	<1 in 1,000,000	1 in 23416	1 in 7808	1 in 23416	1 in 4
PRDX1	Methylmalonic aciduria and homocystinuria, cblC type, digenic	Autosomal recessive, digenic inheritance (MMACHC gene)	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PREPL	Myasthenic syndrome, congenital, type 22	Autosomal recessive	General population	<1 in 500	<1 in 1143	<1 in 1,000,000	<1 in 1,000,000	<1 in 4571	<1 in 2000	<1 in 4571	1 in 4
PRF1	Hemophagocytic lymphohistiocytosis, familial, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 308 1 in 429 1 in 1099 1 in 226 1 in 126	1 in 538 1 in 751 1 in 1923 1 in 396 1 in 221	1 in 663124 <1 in 1,000,000 <1 in 1,000,000 1 in 357532 1 in 111132	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 625681 1 in 194481	1 in 2153 1 in 3003 1 in 7693 1 in 1582 1 in 882	1 in 1232 1 in 1716 1 in 4396 1 in 904 1 in 504	1 in 2153 1 in 3003 1 in 7693 1 in 1582 1 in 882	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 534	<1 in 1,000,000	<1 in 1,000,000	<1 in 2135	<1 in 2000	<1 in 2135	1 in 4
PRICKLE1	Epilepsy, progressive myoclonic, type 1B	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
PRKCD	Autoimmune lymphoproliferative syndrome, type III	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PRKDC	Immunodeficiency 26, with or without neurologic abnormalities	Autosomal recessive	Caucasian/European population	1 in 1716	Reduced	Reduced	Reduced	Reduced	1 in 6864	Reduced	1 in 4
PRKN	Parkinson disease, type 2, juvenile	Autosomal recessive	General population	≤1 in 500	<1 in 816	<1 in 1,000,000	<1 in 1,000,000	<1 in 3264	<1 in 2000	<1 in 3264	1 in 4
PRKRA	Dystonia, type 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PRMT7	Short stature, brachydactyly, intellectual developmental disability, and seizures	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
PROC	Thrombophilia due to protein C deficiency, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 887	<1 in 1,000,000	<1 in 1,000,000	<1 in 3549	<1 in 2000	<1 in 3549	1 in 4
PRODH	Hyperprolinemia, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PROM1	Retinitis pigmentosa, type 41	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
PROP1	Pituitary hormone deficiency, combined, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 84 1 in 45 N/A N/A 1 in 584	1 in 8,299 1 in 4500 N/A N/A 1 in 58400	<1 in 1,000,000 1 in 810000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 33198 1 in 18000 N/A N/A 1 in 233600	1 in 336 1 in 180 N/A N/A 1 in 2336	1 in 33198 1 in 18000 N/A N/A 1 in 233600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PROS1	Thrombophilia due to protein S deficiency, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 761	<1 in 1,000,000	<1 in 1,000,000	<1 in 3044	<1 in 2000	<1 in 3044	1 in 4
PRPH2	Leber congenital amaurosis 18; Retinitis punctata albescens	Autosomal recessive*	General population	≤1 in 500	<1 in 643	<1 in 1,000,000	<1 in 1,000,000	<1 in 2573	<1 in 2000	<1 in 2573	1 in 4
PRPS1	PRPS1-related disoders	X-linked	General African/African American East Asian South Asian Latino	<1 in 50,000 N/A N/A N/A N/A	<1 in 221,000 N/A N/A N/A N/A	1 in 885701 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
PRRX1	Agnathia-otocephaly complex	Autosomal recessive*	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
PRSS1	Trypsinogen deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
PRSS12	Mental retardation, autosomal recessive, type 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PRSS56	Microphthalmia, isolated, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
PRUNE1	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PRX	Charcot-Marie-Tooth disease, type 4F	Autosomal recessive	General population	≤1 in 500	<1 in 825	<1 in 1,000,000	<1 in 1,000,000	<1 in 3301	<1 in 2000	<1 in 3301	1 in 4
PSAP	Combined SAP deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,039 1 in 1941 N/A N/A 1 in 884	1 in 3,873 1 in 3688 N/A N/A 1 in 1680	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 15493 1 in 14752 N/A N/A 1 in 6718	1 in 8156 1 in 7764 N/A N/A 1 in 3536	1 in 15493 1 in 14752 N/A N/A 1 in 6718	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PSAT1	Neu-Laxova syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
PSMB8	Autoinflammation, lipodystrophy, and dermatosis syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
PSMC3IP	Ovarian dysgenesis 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PSPH	Phosphoserine phosphatase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
PTF1A	Pancreatic agenesis 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PTH	Hypoparathyroidism, autosomal recessive	Autosomal recessive*	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
PTH1R	Chondrodysplasia, Blomstrand type; Eiken syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1375	<1 in 1,000,000	<1 in 1,000,000	<1 in 5499	<1 in 2000	<1 in 5499	1 in 4
PTPN23	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PTPRC	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive	Autosomal recessive	Caucasian/European population	1 in 3195	1 in 4792	<1 in 1,000,000	<1 in 1,000,000	1 in 19168	1 in 12780	1 in 19168	1 in 4
PTPRO	Nephrotic syndrome, type 6	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PTPRQ	Deafness, autosomal recessive, type 84A	Autosomal recessive	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
PTRH2	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PTS	Hyperphenylalaninemia, BH4-deficient, type A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 478 1 in 703 1 in 156 1 in 343 1 in 533	1 in 1,259 1 in 1853 1 in 411 1 in 904 1 in 1405	<1 in 1,000,000 <1 in 1,000,000 1 in 256634 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 676581 <1 in 1,000,000 <1 in 1,000,000	1 in 5034 1 in 7413 1 in 1645 1 in 3617 1 in 5621	1 in 1912 1 in 2812 1 in 624 1 in 1372 1 in 2132	1 in 5034 1 in 7413 1 in 1645 1 in 3617 1 in 5621	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PUS1	Myopathy, lactic acidosis, and sideroblastic anemia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 4,496 1 in 1468 1 in 8209 1 in 178 1 in 1297 <1 in 500	1 in 5,722 1 in 1868 1 in 10448 1 in 227 1 in 1651 1 in 37633	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 161300 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 205291 <1 in 1,000,000 <1 in 1,000,000	1 in 22888 1 in 7473 1 in 41791 1 in 906 1 in 6603 1 in 150533	1 in 17984 1 in 5872 1 in 32836 1 in 712 1 in 5188 1 in 4516	1 in 22888 1 in 7473 1 in 41791 1 in 906 1 in 6603 1 in 150533	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PXDN	Anterior segment dysgenesis, type 7, with sclerocornea	Autosomal recessive	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
PYCR1	Cutis laxa, autosomal recessive, type 2B	Autosomal recessive	Caucasian/European population	1 in 401	1 in 721	<1 in 1,000,000	<1 in 1,000,000	1 in 2884	1 in 1604	1 in 2884	1 in 4
PYCR2	Leukodystrophy, hypomyelinating, 10	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
PYGL	Glycogen storage disease, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
PYGM	McArdle disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 206 1 in 220 1 in 368 1 in 366 1 in 147 1 in 120	1 in 641 1 in 686 1 in 1148 1 in 1142 1 in 459 1 in 400	1 in 527854 1 in 604032 <1 in 1,000,000 <1 in 1,000,000 1 in 269680 1 in 192000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 841403 1 in 640000	1 in 2562 1 in 2746 1 in 4593 1 in 4568 1 in 1835 1 in 1600	1 in 824 1 in 880 1 in 1472 1 in 1464 1 in 588 1 in 480	1 in 2562 1 in 2746 1 in 4593 1 in 4568 1 in 1835 1 in 1600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
PYROXD1	Myopathy, myofibrillar, 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
QARS1	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
QDPR	Hyperphenylalaninemia, BH4-deficient, type C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,419 1 in 5766 1 in 9197 1 in 2641 1 in 8124	1 in 5,182 1 in 12356 1 in 19708 1 in 5659 1 in 17409	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 20730 1 in 49423 1 in 78831 1 in 22637 1 in 69634	1 in 9676 1 in 23064 1 in 36788 1 in 10564 1 in 32496	1 in 20730 1 in 49423 1 in 78831 1 in 22637 1 in 69634	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAB18	Warburg micro syndrome, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
RAB23	Carpenter syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 673 1 in 395 N/A N/A N/A	1 in 1,681 1 in 988 N/A N/A N/A	<1 in 1,000,000 <1 in 1,000,000 N/A N/A N/A	<1 in 1,000,000 <1 in 1,000,000 N/A N/A N/A	1 in 6724 1 in 3950 N/A N/A N/A	1 in 2692 1 in 1580 N/A N/A N/A	1 in 6724 1 in 3950 N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAB27A	Griscelli syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
RAB28	Cone-rod dystrophy 18	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
RAB33B	Smith-McCort dysplasia 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RAB39B	Mental retardation, X-linked, type 72; Waisman syndrome	X-linked	General population	≤1 in 500	<1 in 2999998	<1 in 1,000,000	-	-	1 in 4	-	-
RAB3GAP1	Warburg micro syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
RAB3GAP2	Martsolf syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1200	<1 in 1,000,000	<1 in 1,000,000	<1 in 4799	<1 in 2000	<1 in 4799	1 in 4
RAD50	Nijmegen breakage syndrome-like disorder	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RAD51C	Fanconi anemia, complementation group O	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RAG1	Omenn syndrome; Severe combined immunodeficiency, B cell-negative	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 344 1 in 441 1 in 523 1 in 639 1 in 1109	1 in 614 1 in 788 1 in 934 1 in 1141 1 in 1980	1 in 844176 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2454 1 in 3150 1 in 3736 1 in 4564 1 in 7921	1 in 1376 1 in 1764 1 in 2092 1 in 2556 1 in 4436	1 in 2454 1 in 3150 1 in 3736 1 in 4564 1 in 7921	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAG2	Omenn syndrome; Severe combined immunodeficiency, B cell-negative	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,925 1 in 953 N/A 1 in 962 N/A 1 in 821	1 in 3,721 1 in 1842 N/A 1 in 1860 N/A 1 in 82100	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A <1 in 1,000,000	1 in 14883 1 in 7370 N/A 1 in 7439 N/A 1 in 328400	1 in 7700 1 in 3812 N/A 1 in 3848 N/A 1 in 3284	1 in 14883 1 in 7370 N/A 1 in 7439 N/A 1 in 328400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RAPSN	Fetal akinesia deformation sequence, type 2; Myasthenic syndrome, congenital, type 11, associated with AChR deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 165 1 in 1255 1 in 471 1 in 549 1 in 429 1 in 253	1 in 312 1 in 2378 1 in 892 1 in 1040 1 in 813 1 in 25300	1 in 205746 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 388719 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1247 1 in 9512 1 in 3570 1 in 4161 1 in 3251 1 in 101200	1 in 660 1 in 5020 1 in 1884 1 in 2196 1 in 1716 1 in 1012	1 in 1247 1 in 9512 1 in 3570 1 in 4161 1 in 3251 1 in 101200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RARB	Microphthalmia, syndromic 12	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RARS1	Leukodystrophy, hypomyelinating, 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RARS2	Pontocerebellar hypoplasia, type 6	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 269 1 in 109 1 in 70 1 in 260 1 in 158 1 in 89	1 in 365 1 in 148 1 in 95 1 in 353 1 in 214 1 in 2967	1 in 392433 1 in 64497 1 in 26600 1 in 366971 1 in 135519 <1 in 1,000,000	1 in 532066 1 in 87531 1 in 36100 1 in 498033 1 in 183918 <1 in 1,000,000	1 in 1459 1 in 592 1 in 380 1 in 1411 1 in 858 1 in 11867	1 in 1076 1 in 436 1 in 280 1 in 1040 1 in 632 1 in 356	1 in 1459 1 in 592 1 in 380 1 in 1411 1 in 858 1 in 11867	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RASGRP1	Immunodeficiency 64	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RAX	Isolated microphthalmia, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 475 N/A N/A N/A N/A	1 in 302100 N/A N/A N/A N/A	1 in 902500 N/A N/A N/A N/A	1 in 1900 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 1900 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RBBP8	Jawad syndrome; Seckel syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
RBCK1	Polyglucosan body myopathy 1 with or without immunodeficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RBM10	TARP syndrome	X-linked	General population	≤1 in 500	<1 in 1000000	<1 in 1,000,000	-	-	1 in 4	-	-
RBM8A	Thrombocytopenia-absent radius syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 572	<1 in 1,000,000	<1 in 1,000,000	<1 in 2287	<1 in 2000	<1 in 2287	1 in 4
RBP3	?Retinitis pigmentosa 66	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RBP4	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
RCBTB1	Retinal dystrophy with or without extraocular anomalies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RD3	Leber congenital amaurosis 12	Autosomal recessive	Caucasian/European population	1 in 4247	Reduced	Reduced	Reduced	Reduced	1 in 16988	Reduced	1 in 4
RDH12	Leber congenital amaurosis, type 13	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 456 1 in 302 1 in 877 1 in 549 1 in 290	1 in 696 1 in 461 1 in 1340 1 in 839 1 in 443	<1 in 1,000,000 1 in 557358 <1 in 1,000,000 <1 in 1,000,000 1 in 513944	<1 in 1,000,000 1 in 851519 <1 in 1,000,000 <1 in 1,000,000 1 in 785193	1 in 2785 1 in 1846 1 in 5359 1 in 3355 1 in 1772	1 in 1824 1 in 1208 1 in 3508 1 in 2196 1 in 1160	1 in 2785 1 in 1846 1 in 5359 1 in 3355 1 in 1772	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RDH5	Fundus albipunctatus	Autosomal recessive*	General population	≤1 in 500	<1 in 885	<1 in 1,000,000	<1 in 1,000,000	<1 in 3539	<1 in 2000	<1 in 3539	1 in 4
RDX	Deafness, autosomal recessive, type 24	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
RECQL4	Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 818	<1 in 1,000,000	<1 in 1,000,000	<1 in 3271	<1 in 2000	<1 in 3271	1 in 4
REEP6	Retinitis pigmentosa 77	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RELN	Lissencephaly 2 (Norman-Roberts type)	Autosomal recessive	General population	≤1 in 500	<1 in 861	<1 in 1,000,000	<1 in 1,000,000	<1 in 3445	<1 in 2000	<1 in 3445	1 in 4
REN	Renal tubular dysgenesis	Autosomal recessive	General population	N/A	N/A	N/A	N/A	N/A	N/A	N/A	1 in 4
RETREG1	Neuropathy, hereditary sensory and autonomic, type 2B	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
RFT1	Congenital disorder of glycosylation, type In	Autosomal recessive	General population	<1 in 500	Reduced	Reduced	Reduced	Reduced	<1 in 2000	Reduced	1 in 4
RFX5	Bare lymphocyte syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 2774	Reduced	Reduced	Reduced	Reduced	1 in 11096	Reduced	1 in 4
RFX6	Mitchell-Riley syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1833	<1 in 1,000,000	<1 in 1,000,000	<1 in 7330	<1 in 2000	<1 in 7330	1 in 4
RFXANK	Bare lymphocyte syndrome, type 2, complementation group B	Autosomal recessive	Caucasian/European population	1 in 1650	1 in 1856	<1 in 1,000,000	<1 in 1,000,000	1 in 7425	1 in 6600	1 in 7425	1 in 4
RFXAP	Bare lymphocyte syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 1913	Reduced	Reduced	Reduced	Reduced	1 in 7652	Reduced	1 in 4
RGR	Retinitis pigmentosa, type 44	Autosomal recessive	General population	≤1 in 500	<1 in 556	<1 in 1,000,000	<1 in 1,000,000	<1 in 2224	<1 in 2000	<1 in 2224	1 in 4
RHO	Retinitis pigmentosa, type 4; Retinitis punctata albescens	Autosomal recessive*	General population	≤1 in 500	<1 in 818	<1 in 1,000,000	<1 in 1,000,000	<1 in 3271	<1 in 2000	<1 in 3271	1 in 4
RIN2	Macs syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
RIPK4	Popliteal pterygium syndrome, Bartsocas-Papas type	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
RIPOR2	Deafness, autosomal recessive 104	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RLBP1	Bothnia retinal dystrophy; Fundus albipunctatus	Autosomal recessive; Autosomal recessive*	Caucasian/European population	1 in 1115	1 in 1783	<1 in 1,000,000	<1 in 1,000,000	1 in 7134	1 in 4460	1 in 7134	1 in 4
RLIM	Mental retardation, X-linked 61	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
RMND1	Combined oxidative phosphorylation deficiency 11	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RMRP	Anauxetic dysplasia, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 143 1 in 303 1 in 413 1 in 294 1 in 719	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 572 1 in 1212 1 in 1652 1 in 1176 1 in 2876	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RNASEH1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RNASEH2A	Aicardi-Goutieres syndrome, type 4	Autosomal recessive	Caucasian/European population	1 in 192	1 in 356	1 in 273189	1 in 506131	1 in 1423	1 in 768	1 in 1423	1 in 4
RNASEH2B	Aicardi-Goutieres syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 80	1 in 117	1 in 37397	1 in 54631	1 in 467	1 in 320	1 in 467	1 in 4
RNASEH2C	Aicardi-Goutieres syndrome, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,525 1 in 4272 1 in 2928 1 in 374 1 in 2703	1 in 3,557 1 in 9968 1 in 6832 1 in 873 1 in 6307	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 14228 1 in 39872 1 in 27328 1 in 3491 1 in 25228	1 in 6100 1 in 17088 1 in 11712 1 in 1496 1 in 10812	1 in 14228 1 in 39872 1 in 27328 1 in 3491 1 in 25228	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RNASET2	Leukoencephalopathy, cystic, without megalencephaly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RNF168	RIDDLE syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
RNF216	Gordon Holmes syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RNU4ATAC	Microcephalic osteodysplastic primordial dwarfism, type I	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ROBO3	Gaze palsy, familial horizontal, with progressive scoliosis, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 728	<1 in 1,000,000	<1 in 1,000,000	<1 in 2910	<1 in 2000	<1 in 2910	1 in 4
ROGDI	Kohlschutter-Tonz syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 950	<1 in 1,000,000	<1 in 1,000,000	<1 in 3800	<1 in 2000	<1 in 3800	1 in 4
ROM1	Retinitis pigmentosa, type 7, digenic	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
ROR2	Robinow syndrome, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1428	<1 in 1,000,000	<1 in 1,000,000	<1 in 5713	<1 in 2000	<1 in 5713	1 in 4
RORC	Immunodeficiency 42	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RP1	Retinitis pigmentosa, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 663	<1 in 1,000,000	<1 in 1,000,000	<1 in 2654	<1 in 2000	<1 in 2654	1 in 4
RP2	Retinitis pigmentosa, type 2, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 177,778 N/A N/A N/A N/A	1 in 249,736 N/A N/A N/A N/A	1 in 998943 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
RPE65	RPE65-related Leber congenital amaurosis/early-onset severe retinal dystrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 366 1 in 190 1 in 289 1 in 265 1 in 345 <1 in 500 1 in 90	1 in 496 1 in 258 1 in 392 1 in 360 1 in 468 1 in 164167 1 in 3000	1 in 726667 1 in 195971 1 in 453400 1 in 381221 1 in 646136 <1 in 1,000,000 <1 in 1,000,000	1 in 985482 1 in 265961 1 in 615328 1 in 517372 1 in 876898 <1 in 1,000,000 <1 in 1,000,000	1 in 1985 1 in 1031 1 in 1569 1 in 1439 1 in 1873 1 in 656667 1 in 12000	1 in 1464 1 in 760 1 in 1156 1 in 1060 1 in 1380 1 in 19700 1 in 360	1 in 1985 1 in 1031 1 in 1569 1 in 1439 1 in 1873 1 in 656667 1 in 12000	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RPGR	Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1	X-linked	General African/African American East Asian South Asian Latino	1 in 31,373 N/A N/A N/A N/A	1 in 35,705 N/A N/A N/A N/A	1 in 142819 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
RPGRIP1	Leber congenital amaurosis 6	Autosomal recessive	Caucasian/European population	1 in 608	1 in 1057	<1 in 1,000,000	<1 in 1,000,000	1 in 4227	1 in 2432	1 in 4227	1 in 4
RPGRIP1L	Joubert syndrome, type 7; Meckel syndrome, type 5; COACH syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 319 1 in 257 1 in 197 1 in 528 1 in 619	1 in 860 1 in 694 1 in 532 1 in 1426 1 in 1671	<1 in 1,000,000 1 in 713329 1 in 419137 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3438 1 in 2776 1 in 2128 1 in 5702 1 in 6685	1 in 1276 1 in 1028 1 in 788 1 in 2112 1 in 2476	1 in 3438 1 in 2776 1 in 2128 1 in 5702 1 in 6685	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RPL10	Mental retardation, X-linked, syndromic, type 35	X-linked	General population	≤1 in 500	<1 in 1000000	<1 in 1,000,000	-	-	1 in 4	-	-
RPS6KA3	Mental retardation, X-linked, type 19	X-linked	General population	1 in 50000	1 in 78888	1 in 315553	-	-	1 in 4	-	-
RRM2B	Mitochondrial DNA depletion syndrome, type 8A (encephalomyopathic type with renal tubulopathy) and type 8B (MNGIE type)	Autosomal recessive	General population	≤1 in 500	<1 in 1533	<1 in 1,000,000	<1 in 1,000,000	<1 in 6131	<1 in 2000	<1 in 6131	1 in 4
RS1	Retinoschisis	X-linked	Caucasian/European African/African American East Asian South Asian Latino	1 in 25,000 1 in 25000 N/A N/A 1 in 25000	1 in 44,241 1 in 44242 N/A N/A 1 in 44242	1 in 176965 1 in 176968 N/A N/A 1 in 176968	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
RSPH1	Ciliary dyskinesia, primary, 24	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RSPH3	Ciliary dyskinesia, primary, 32	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RSPH4A	Ciliary dyskinesia, primary, type 11	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
RSPH9	Ciliary dyskinesia, primary, type 12	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
RSPO1	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RSPO4	Anonychia congenita	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
RSPRY1	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RTEL1	Dyskeratosis congenita, autosomal recessive type 5	Autosomal recessive*	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 800 1 in 756 1 in 385 1 in 730 1 in 1385 ≤1 in 165	N/A N/A N/A N/A N/A 1 in 6068	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A 1 in 24272	1 in 3200 1 in 3024 1 in 1540 1 in 2920 1 in 5540 1 in 728	N/A N/A N/A N/A N/A 1 in 24272	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
RTN4IP1	Optic atrophy 10 with or without ataxia, mental retardation, and seizures	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RTTN	Microcephaly, short stature, and polymicrogyria with seizures	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RUSC2	Mental retardation, autosomal recessive 61	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RXYLT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
RYR1	Minicore myopathy with external ophthalmoplegia	Autosomal recessive	General population	≤1 in 500	<1 in 541	<1 in 1,000,000	<1 in 1,000,000	<1 in 2162	<1 in 2000	<1 in 2162	1 in 4
S1PR2	Deafness, autosomal recessive 68	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SACS	Spastic ataxia, Charlevoix-Saguenay, type	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 100 1 in 201 1 in 338 1 in 383 1 in 309	1 in 146 1 in 295 1 in 496 1 in 562 1 in 453	1 in 58502 1 in 237108 1 in 670481 1 in 860896 1 in 560364	1 in 85561 1 in 347887 1 in 983739 <1 in 1,000,000 1 in 822173	1 in 585 1 in 1180 1 in 1984 1 in 2248 1 in 1813	1 in 400 1 in 804 1 in 1352 1 in 1532 1 in 1236	1 in 585 1 in 1180 1 in 1984 1 in 2248 1 in 1813	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SAG	Oguchi disease, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SAMD9	Tumoral calcinosis, familial, normophosphatemic	Autosomal recessive	General population	1 in 500	Reduced	Reduced	Reduced	Reduced	1 in 2000	Reduced	1 in 4
SAMHD1	Aicardi-Goutieres syndrome, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 610 1 in 2428 1 in 355 1 in 3837 1 in 2032	1 in 1,147 1 in 4570 1 in 668 1 in 7223 1 in 3825	<1 in 1,000,000 <1 in 1,000,000 1 in 948894 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4589 1 in 18281 1 in 2673 1 in 28890 1 in 15300	1 in 2440 1 in 9712 1 in 1420 1 in 15348 1 in 8128	1 in 4589 1 in 18281 1 in 2673 1 in 28890 1 in 15300	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SAR1B	Chylomicron retention disease	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
SARDH	[Sarcosinemia]	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SARS2	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
SBDS	Shwachman-Diamond syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 224 N/A N/A N/A N/A	1 in 804 N/A N/A N/A N/A	1 in 720900 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 3217 N/A N/A N/A N/A	1 in 896 N/A N/A N/A N/A	1 in 3217 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SBF1	Charcot-Marie-Tooth disease, type 4B3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SBF2	Charcot-Marie-Tooth disease, type 4B2	Autosomal recessive	General population	≤1 in 500	<1 in 1154	<1 in 1,000,000	<1 in 1,000,000	<1 in 4615	<1 in 2000	<1 in 4615	1 in 4
SC5D	Lathosterolosis	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SCARB2	Epilepsy, progressive myoclonic, type 4, with or without renal failure	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
SCARF2	Van den Ende-Gupta syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SCN1B	Epileptic encephalopathy, early infantile, type 52	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
SCN4A	Myasthenic syndrome, congenital, type 16	Autosomal recessive	General population	<1 in 500	<1 in 1437	<1 in 1,000,000	<1 in 1,000,000	<1 in 5748	<1 in 2000	<1 in 5748	1 in 4
SCN9A	Indifference to pain and autosomal recessive hereditary sensory neuropathy type 2D	Autosomal recessive	General population	≤1 in 500	<1 in 1111	<1 in 1,000,000	<1 in 1,000,000	<1 in 4444	<1 in 2000	<1 in 4444	1 in 4
SCNN1A	Pseudohypoaldosteronism, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 929	<1 in 1,000,000	<1 in 1,000,000	<1 in 3715	<1 in 2000	<1 in 3715	1 in 4
SCNN1B	Pseudohypoaldosteronism, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 679	<1 in 1,000,000	<1 in 1,000,000	<1 in 2716	<1 in 2000	<1 in 2716	1 in 4
SCNN1G	Pseudohypoaldosteronism, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 4497	<1 in 1,000,000	<1 in 1,000,000	<1 in 17986	<1 in 2000	<1 in 17986	1 in 4
SCO1	Mitochondrial complex IV deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
SCYL1	Spinocerebellar ataxia, autosomal recessive, type 21	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SDCCAG8	Bardet-Biedl syndrome, type 16	Autosomal recessive	Caucasian/European population	1 in 678	1 in 1581	<1 in 1,000,000	<1 in 1,000,000	1 in 6323	1 in 2712	1 in 6323	1 in 4
SDHA	Mitochondrial respiratory chain complex II deficiency; Leigh syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 742	<1 in 1,000,000	<1 in 1,000,000	<1 in 2969	<1 in 2000	<1 in 2969	1 in 4
SDHAF1	Mitochondrial complex II deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SDR9C7	Ichthyosis, congenital, autosomal recessive 13	Autosomal recessive	Caucasian/European population	1 in 1942	Reduced	Reduced	Reduced	Reduced	1 in 7768	Reduced	1 in 4
SEC23A	Craniolenticulosutural dysplasia	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
SEC23B	Dyserythropoietic anemia, congenital, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
SEC24D	Cole-Carpenter syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SECISBP2	Thyroid hormone metabolism, abnormal	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
SELENON	Muscular dystrophy, rigid spine, type 1	Autosomal recessive	Caucasian/European population	1 in 499	1 in 635	<1 in 1,000,000	<1 in 1,000,000	1 in 2539	1 in 1996	1 in 2539	1 in 4
SEMA4A	Cone-rod dystrophy, type 10; Retinitis pigmentosa, type 35	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
SEPSECS	Pontocerebellar hypoplasia, type 2D	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 656 1 in 711 1 in 154 1 in 470 1 in 672 <1 in 500 1 in 41	1 in 743 1 in 806 1 in 175 1 in 533 1 in 762 1 in 55500 1 in 1367	<1 in 1,000,000 <1 in 1,000,000 1 in 107513 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 224133	<1 in 1,000,000 <1 in 1,000,000 1 in 121848 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2973 1 in 3223 1 in 698 1 in 2131 1 in 3046 1 in 222000 1 in 5467	1 in 2624 1 in 2844 1 in 616 1 in 1880 1 in 2688 1 in 6660 1 in 164	1 in 2973 1 in 3223 1 in 698 1 in 2131 1 in 3046 1 in 222000 1 in 5467	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SERPINA1	Alpha-1 antitrypsin deficiency	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 24 1 in 35 N/A N/A 1 in 35	<1 in 469 1 in 700 N/A N/A 1 in 700	1 in 45754 1 in 98000 N/A N/A 1 in 98000	1 in 879453 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 1876 1 in 2800 N/A N/A 1 in 2800	1 in 98 1 in 140 N/A N/A 1 in 140	1 in 1876 1 in 2800 N/A N/A 1 in 2800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SERPINA6	Corticosteroid-binding globulin deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SERPINB7	Palmoplantar keratoderma, Nagashima type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SERPINB8	Peeling skin syndrome 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SERPINC1	Thrombophilia due to antithrombin III deficiency	Autosomal recessive*	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
SERPINE1	Plasminogen activator inhibitor-1 deficiency	Autosomal recessive*	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
SERPINF1	Osteogenesis imperfecta, type 6	Autosomal recessive	Caucasian/European population	1 in 1456	1 in 2264	<1 in 1,000,000	<1 in 1,000,000	1 in 9057	1 in 5824	1 in 9057	1 in 4
SERPINF2	Alpha-2-plasmin inhibitor deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SERPING1	Angioedema, hereditary, types 1 and 2	Autosomal recessive*	General population	≤1 in 500	<1 in 715	<1 in 1,000,000	<1 in 1,000,000	<1 in 2858	<1 in 2000	<1 in 2858	1 in 4
SERPINH1	Osteogenesis imperfecta, type 10	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
SETX	Spinocerebellar ataxia, autosomal recessive, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1114	<1 in 1,000,000	<1 in 1,000,000	<1 in 4454	<1 in 2000	<1 in 4454	1 in 4
SFRP4	Pyle disease	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SFTPB	Surfactant metabolism dysfunction, pulmonary, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
SFXN4	Combined oxidative phosphorylation deficiency 18	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SGCA	Limb-girdle muscular dystrophy, type 3 (LGMD R3)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 288 1 in 427 1 in 2202 1 in 1539 1 in 951	1 in 1,938 1 in 2882 1 in 14864 1 in 10388 1 in 6419	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7753 1 in 11529 1 in 59454 1 in 41553 1 in 25677	1 in 1152 1 in 1708 1 in 8808 1 in 6156 1 in 3804	1 in 7753 1 in 11529 1 in 59454 1 in 41553 1 in 25677	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGCB	Limb-girdle muscular dystrophy, type 4 (LGMD R4)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 628 1 in 653 1 in 1437 1 in 373 1 in 3358	1 in 2,330 1 in 2425 1 in 5337 1 in 1385 1 in 12473	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 9319 1 in 9702 1 in 21350 1 in 5542 1 in 49890	1 in 2512 1 in 2612 1 in 5748 1 in 1492 1 in 13432	1 in 9319 1 in 9702 1 in 21350 1 in 5542 1 in 49890	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGCD	Limb-girdle muscular dystrophy, type 6 (LGMD R6)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 3,766 1 in 3799 1 in 6454 1 in 6537 1 in 1897	1 in 11,296 1 in 11397 1 in 19362 1 in 19611 1 in 5691	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 45184 1 in 45588 1 in 77448 1 in 78444 1 in 22764	1 in 15064 1 in 15196 1 in 25816 1 in 26148 1 in 7588	1 in 45184 1 in 45588 1 in 77448 1 in 78444 1 in 22764	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGCG	Limb-girdle muscular dystrophy, type 5 (LGMD R5)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,132 1 in 828 1 in 380 1 in 2955 1 in 2105	1 in 5,468 1 in 4002 1 in 1837 1 in 14283 1 in 10174	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 21870 1 in 16008 1 in 7347 1 in 57130 1 in 40697	1 in 4528 1 in 3312 1 in 1520 1 in 11820 1 in 8420	1 in 21870 1 in 16008 1 in 7347 1 in 57130 1 in 40697	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SGO1	Chronic atrial and intestinal dysrhythmia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SGPL1	Nephrotic syndrome, type 14	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SGSH	Mucopolysaccharidosis, type 3A (Sanfilippo A)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 253 1 in 470 1 in 216 1 in 459 1 in 436	1 in 1,261 1 in 2350 1 in 1080 1 in 2295 1 in 2180	<1 in 1,000,000 <1 in 1,000,000 1 in 933120 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5044 1 in 9400 1 in 4320 1 in 9180 1 in 8720	1 in 1012 1 in 1880 1 in 864 1 in 1836 1 in 1744	1 in 5044 1 in 9400 1 in 4320 1 in 9180 1 in 8720	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SH2D1A	Lymphoproliferative syndrome, X-linked, type 1	X-linked	General African/African American East Asian South Asian Latino	<1 in 500,000 N/A N/A N/A N/A	<1 in 829,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
SH3PXD2B	Frank-ter Haar syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SH3TC2	Charcot-Marie-Tooth disease, type 4C	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 72 N/A N/A N/A N/A	1 in 184 N/A N/A N/A N/A	1 in 52869 N/A N/A N/A N/A	1 in 134794 N/A N/A N/A N/A	1 in 734 N/A N/A N/A N/A	1 in 288 N/A N/A N/A N/A	1 in 734 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome	X-linked	General population	≤1 in 500	<1 in 1000000	<1 in 1,000,000	-	-	1 in 4	-	-
SI	Sucrase-isomaltase deficiency, congenital	Autosomal recessive	General population	≤1 in 500	<1 in 1666	<1 in 1,000,000	<1 in 1,000,000	<1 in 6664	<1 in 2000	<1 in 6664	1 in 4
SIL1	Marinesco-Sjogren syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1400	<1 in 1,000,000	<1 in 1,000,000	<1 in 5598	<1 in 2000	<1 in 5598	1 in 4
SIX6	Optic disc anomalies with retinal and/or macular dystrophy	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
SKIV2L	Trichohepatoenteric syndrome, type 2 (diarrhea, syndromic)	Autosomal recessive	Caucasian/European population	1 in 210	1 in 273	1 in 229068	1 in 297461	1 in 1091	1 in 840	1 in 1091	1 in 4
SLC10A2	Bile acid malabsorption, primary	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
SLC11A2	Anemia, hypochromic microcytic, with iron overload 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC12A1	Bartter syndrome, type 1	Autosomal recessive	Caucasian/European population	1 in 365	1 in 1275	<1 in 1,000,000	<1 in 1,000,000	1 in 5100	1 in 1460	1 in 5100	1 in 4
SLC12A3	Gitelman syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 73 1 in 138 1 in 28 1 in 145 1 in 131	1 in 97 1 in 184 1 in 37 1 in 193 1 in 175	1 in 28324 1 in 101568 1 in 4181 1 in 112133 1 in 91525	1 in 37636 1 in 135424 1 in 5575 1 in 149511 1 in 122034	1 in 388 1 in 736 1 in 149 1 in 773 1 in 699	1 in 292 1 in 552 1 in 112 1 in 580 1 in 524	1 in 388 1 in 736 1 in 149 1 in 773 1 in 699	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC12A5	Epileptic encephalopathy, early infantile, 34	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,515 1 in 500 1 in 2872 1 in 2564 1 in 764	1 in 151,401 1 in 50000 1 in 287200 1 in 256400 1 in 76400	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 605604 1 in 200000 <1 in 1,000,000 <1 in 1,000,000 1 in 305600	1 in 6060 1 in 2000 1 in 11488 1 in 10256 1 in 3056	1 in 605604 1 in 200000 <1 in 1,000,000 <1 in 1,000,000 1 in 305600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC13A5	Epileptic encephalopathy, early infantile, 25	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC16A1	Monocarboxylate transporter 1 deficiency	Autosomal recessive*	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
SLC16A2	Allan-Herndon-Dudley syndrome	X-linked	General African/African American East Asian South Asian Latino	1 in 50,000 N/A N/A N/A N/A	1 in 67,647 N/A N/A N/A N/A	1 in 270587 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
SLC17A5	Salla disease	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 328 1 in 853 1 in 1723 1 in 3847 1 in 777	1 in 32,701 1 in 85300 1 in 172300 1 in 384700 1 in 77700	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 130804 1 in 341200 1 in 689200 <1 in 1,000,000 1 in 310800	1 in 1312 1 in 3412 1 in 6892 1 in 15388 1 in 3108	1 in 130804 1 in 341200 1 in 689200 <1 in 1,000,000 1 in 310800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC18A3	Myasthenic syndrome, congenital, 21, presynaptic	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC19A2	Thiamine-responsive megaloblastic anemia syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 500 1 in 500 N/A N/A 1 in 500	1 in 888 1 in 889 N/A N/A 1 in 889	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 3552 1 in 3556 N/A N/A 1 in 3556	1 in 2000 1 in 2000 N/A N/A 1 in 2000	1 in 3552 1 in 3556 N/A N/A 1 in 3556	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC19A3	Thiamine metabolism dysfunction syndrome, type 2 (biotin- or thiamine-responsive encephalopathy type)	Autosomal recessive	General population	≤1 in 500	<1 in 1036	<1 in 1,000,000	<1 in 1,000,000	<1 in 4143	<1 in 2000	<1 in 4143	1 in 4
SLC1A1	Dicarboxylic aminoaciduria	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC1A4	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC22A12	Hypouricemia, renal	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
SLC22A5	Carnitine deficiency, systemic primary	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 251 1 in 98 1 in 69 1 in 51 1 in 268	1 in 544 1 in 213 1 in 150 1 in 111 1 in 582	1 in 546162 1 in 83437 1 in 41363 1 in 22597 1 in 623991	<1 in 1,000,000 1 in 181222 1 in 89837 1 in 49079 <1 in 1,000,000	1 in 2176 1 in 851 1 in 599 1 in 443 1 in 2328	1 in 1004 1 in 392 1 in 276 1 in 204 1 in 1072	1 in 2176 1 in 851 1 in 599 1 in 443 1 in 2328	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC24A1	Night blindness, congenital stationary (complete), type 1D, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 584	<1 in 1,000,000	<1 in 1,000,000	<1 in 2335	<1 in 2000	<1 in 2335	1 in 4
SLC24A4	Amelogenesis imperfecta, type IIA5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC24A5	Albinism, oculocutaneous, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 917	<1 in 1,000,000	<1 in 1,000,000	<1 in 3667	<1 in 2000	<1 in 3667	1 in 4
SLC25A1	Combined D-2- and L-2-hydroxyglutaric aciduria	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC25A12	Epileptic encephalopathy, early infantile, type 39	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
SLC25A13	Citrullinemia, type 2, neonatal-onset; Citrullinemia, type 2, adult-onset	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 619 1 in 435 1 in 48 1 in 496 1 in 990	1 in 1,426 1 in 1003 1 in 111 1 in 1143 1 in 2282	<1 in 1,000,000 <1 in 1,000,000 1 in 21244 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 48968 <1 in 1,000,000 <1 in 1,000,000	1 in 5702 1 in 4011 1 in 443 1 in 4573 1 in 9128	1 in 2476 1 in 1740 1 in 192 1 in 1984 1 in 3960	1 in 5702 1 in 4011 1 in 443 1 in 4573 1 in 9128	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,283 1 in 898 1 in 302 1 in 1924 1 in 1119	1 in 4,820 1 in 3375 1 in 1135 1 in 7232 1 in 4206	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 19279 1 in 13502 1 in 4541 1 in 28928 1 in 16824	1 in 5132 1 in 3592 1 in 1208 1 in 7696 1 in 4476	1 in 19279 1 in 13502 1 in 4541 1 in 28928 1 in 16824	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC25A19	Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	Autosomal recessive	General population	≤1 in 500	<1 in 715	<1 in 1,000,000	<1 in 1,000,000	<1 in 2858	<1 in 2000	<1 in 2858	1 in 4
SLC25A20	Carnitine-acylcarnitine translocase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,988 1 in 1902 1 in 485 1 in 2188 1 in 808	1 in 7,949 1 in 7608 1 in 1940 1 in 8752 1 in 3232	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 31796 1 in 30432 1 in 7760 1 in 35008 1 in 12928	1 in 7952 1 in 7608 1 in 1940 1 in 8752 1 in 3232	1 in 31796 1 in 30432 1 in 7760 1 in 35008 1 in 12928	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC25A22	Epileptic encephalopathy, early infantile, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
SLC25A26	Combined oxidative phosphorylation deficiency 28	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC25A3	Mitochondrial phosphate carrier deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SLC25A38	Anemia, sideroblastic, type 2, pyridoxine-refractory	Autosomal recessive	General population	≤1 in 500	<1 in 2249	<1 in 1,000,000	<1 in 1,000,000	<1 in 8995	<1 in 2000	<1 in 8995	1 in 4
SLC25A4	Mitochondrial DNA depletion syndrome, type 12B (cardiomyopathic type) AR	Autosomal recessive	General population	≤1 in 500	<1 in 1083	<1 in 1,000,000	<1 in 1,000,000	<1 in 4333	<1 in 2000	<1 in 4333	1 in 4
SLC25A46	Neuropathy, hereditary motor and sensory, type VIB	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC26A2	Achondrogenesis, type 1B (diastrophic dysplasia)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 129 1 in 341 1 in 510 1 in 853 1 in 248	1 in 428 1 in 1137 1 in 1700 1 in 2843 1 in 827	1 in 220676 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 820053	1 in 731595 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1711 1 in 4547 1 in 6800 1 in 11373 1 in 3307	1 in 516 1 in 1364 1 in 2040 1 in 3412 1 in 992	1 in 1711 1 in 4547 1 in 6800 1 in 11373 1 in 3307	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC26A3	Diarrhea 1, secretory chloride, congenital	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC26A4	Deafness, autosomal recessive, type 4; Pendred syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 88 1 in 76 1 in 31 1 in 60 1 in 135	1 in 403 1 in 351 1 in 143 1 in 277 1 in 624	1 in 141885 1 in 106778 1 in 17766 1 in 66551 1 in 336916	1 in 649897 1 in 493487 1 in 82105 1 in 307575 <1 in 1,000,000	1 in 1612 1 in 1405 1 in 573 1 in 1109 1 in 2496	1 in 352 1 in 304 1 in 124 1 in 240 1 in 540	1 in 1612 1 in 1405 1 in 573 1 in 1109 1 in 2496	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC26A5	?Deafness, autosomal recessive 61	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC27A4	Ichthyosis prematurity syndrome	Autosomal recessive	Caucasian/European population	1 in 811	1 in 1261	<1 in 1,000,000	<1 in 1,000,000	1 in 5044	1 in 3244	1 in 5044	1 in 4
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
SLC2A1	GLUT1 deficiency syndrome 1, infantile onset, severe	Autosomal recessive*	General population	≤1 in 500	<1 in 964	<1 in 1,000,000	<1 in 1,000,000	<1 in 3857	<1 in 2000	<1 in 3857	1 in 4
SLC2A10	Arterial tortuosity syndrome	Autosomal recessive	Caucasian/European population	1 in 1113	1 in 4449	<1 in 1,000,000	<1 in 1,000,000	1 in 17796	1 in 4452	1 in 17796	1 in 4
SLC2A2	Fanconi-Bickel syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
SLC2A9	Hypouricemia, renal, type 2	Autosomal recessive*	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
SLC30A10	Hypermanganesemia with dystonia, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1200	<1 in 1,000,000	<1 in 1,000,000	<1 in 4799	<1 in 2000	<1 in 4799	1 in 4
SLC33A1	Congenital cataracts, hearing loss, and neurodegeneration	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
SLC34A1	Hypercalcemia, infantile, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 773	<1 in 1,000,000	<1 in 1,000,000	<1 in 3092	<1 in 2000	<1 in 3092	1 in 4
SLC34A2	Pulmonary alveolar microlithiasis	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
SLC34A3	Hypophosphatemic rickets with hypercalciuria	Autosomal recessive	General population	≤1 in 500	<1 in 650	<1 in 1,000,000	<1 in 1,000,000	<1 in 2601	<1 in 2000	<1 in 2601	1 in 4
SLC35A1	Congenital disorder of glycosylation, type 2F	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,500 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5998 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 5998 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC35A3	?Arthrogryposis, mental retardation, and seizures	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 4,537 1 in 3999 N/A 1 in 3996 1 in 3356 1 in 453	1 in 6,805 1 in 5999 N/A 1 in 5994 1 in 5034 1 in 15100	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 27220 1 in 23994 N/A 1 in 23976 1 in 20136 1 in 60400	1 in 18148 1 in 15996 N/A 1 in 15984 1 in 13424 1 in 1812	1 in 27220 1 in 23994 N/A 1 in 23976 1 in 20136 1 in 60400	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC35C1	Congenital disorder of glycosylation, type 2C	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC35D1	Schneckenbecken dysplasia	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC37A4	Glycogen storage disease, type 1B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 597 1 in 1414 1 in 511 1 in 821 1 in 979	1 in 1,677 1 in 3646 1 in 1318 1 in 2117 1 in 2525	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6709 1 in 14586 1 in 5271 1 in 8469 1 in 10099	1 in 2388 1 in 5656 1 in 2044 1 in 3284 1 in 3916	1 in 6709 1 in 14586 1 in 5271 1 in 8469 1 in 10099	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC38A8	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC39A13	Ehlers-Danlos syndrome, spondylodysplastic type, 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC39A14	Hypermanganesemia with dystonia 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC39A4	Acrodermatitis enteropathica	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 316 1 in 421 1 in 1248 1 in 1099 1 in 1300	1 in 335 1 in 468 1 in 1387 1 in 1221 1 in 1444	1 in 422845 1 in 787738 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 447640 1 in 875264 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1338 1 in 1871 1 in 5547 1 in 4884 1 in 5778	1 in 1264 1 in 1684 1 in 4992 1 in 4396 1 in 5200	1 in 1338 1 in 1871 1 in 5547 1 in 4884 1 in 5778	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC39A8	Congenital disorder of glycosylation, type IIn	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC3A1	Cystinuria	Autosomal recessive*	General African/African American East Asian South Asian Latino	1 in 42 N/A N/A N/A N/A	1 in 84 N/A N/A N/A N/A	1 in 14171 N/A N/A N/A N/A	1 in 28008 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 169 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC45A1	Intellectual developmental disorder with neuropsychiatric features	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC45A2	Albinism, oculocutaneous, type 4	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,600 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6398 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 6398 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC46A1	Folate malabsorption, hereditary	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,468 1 in 2698 1 in 1773 1 in 1256 1 in 3964	1 in 13,981 1 in 15289 1 in 10047 1 in 7117 1 in 22463	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 55923 1 in 61155 1 in 40188 1 in 28469 1 in 89851	1 in 9872 1 in 10792 1 in 7092 1 in 5024 1 in 15856	1 in 55923 1 in 61155 1 in 40188 1 in 28469 1 in 89851	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC4A1	Distal renal tubular acidosis	Autosomal recessive	General population	≤1 in 500	<1 in 976	<1 in 1,000,000	<1 in 1,000,000	<1 in 3905	<1 in 2000	<1 in 3905	1 in 4
SLC4A11	Corneal endothelial dystrophy, autosomal recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 806 1 in 373 1 in 316 1 in 1183 1 in 770	1 in 1,921 1 in 889 1 in 754 1 in 2821 1 in 1836	<1 in 1,000,000 <1 in 1,000,000 1 in 952473 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7682 1 in 3558 1 in 3014 1 in 11284 1 in 7345	1 in 3224 1 in 1492 1 in 1264 1 in 4732 1 in 3080	1 in 7682 1 in 3558 1 in 3014 1 in 11284 1 in 7345	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC4A4	Renal tubular acidosis, proximal, with ocular abnormalities	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
SLC52A2	Brown-Vialetto-Van Laere syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 523	<1 in 1,000,000	<1 in 1,000,000	<1 in 2093	<1 in 2000	<1 in 2093	1 in 4
SLC52A3	Brown-Vialetto-Van Laere syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 619	<1 in 1,000,000	<1 in 1,000,000	<1 in 2478	<1 in 2000	<1 in 2478	1 in 4
SLC5A1	Glucose/galactose malabsorption	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC5A2	Renal glucosuria	Autosomal recessive*	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
SLC5A5	Thyroid dyshormonogenesis, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 72 N/A N/A N/A N/A	1 in 96 N/A N/A N/A N/A	1 in 27552 N/A N/A N/A N/A	1 in 36608 N/A N/A N/A N/A	1 in 383 N/A N/A N/A N/A	1 in 288 N/A N/A N/A N/A	1 in 383 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC5A7	Myasthenic syndrome, congenital, type 20, presynaptic	Autosomal recessive	General population	<1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SLC6A17	Mental retardation, autosomal recessive 48	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC6A19	Hartnup disorder	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 87 N/A N/A N/A N/A	1 in 124 N/A N/A N/A N/A	1 in 43207 N/A N/A N/A N/A	1 in 61512 N/A N/A N/A N/A	1 in 496 N/A N/A N/A N/A	1 in 348 N/A N/A N/A N/A	1 in 496 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC6A3	Parkinsonism-dystonia, infantile	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
SLC6A5	Hyperekplexia, type 3	Autosomal recessive*	General population	≤1 in 500	<1 in 688	<1 in 1,000,000	<1 in 1,000,000	<1 in 2751	<1 in 2000	<1 in 2751	1 in 4
SLC6A8	Cerebral creatine deficiency syndrome, type 1	X-linked	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
SLC6A9	Glycine encephalopathy with normal serum glycine	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC7A14	Retinitis pigmentosa 68	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC7A7	Lysinuric protein intolerance	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 522 1 in 595 1 in 724 1 in 1283 1 in 2821	1 in 1,490 1 in 1700 1 in 2069 1 in 3666 1 in 8060	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 5958 1 in 6800 1 in 8274 1 in 14663 1 in 32240	1 in 2088 1 in 2380 1 in 2896 1 in 5132 1 in 11284	1 in 5958 1 in 6800 1 in 8274 1 in 14663 1 in 32240	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC7A9	Cystinuria	Autosomal recessive*	General African/African American East Asian South Asian Latino	1 in 42 N/A N/A N/A N/A	1 in 48 N/A N/A N/A N/A	1 in 8208 N/A N/A N/A N/A	1 in 9395 N/A N/A N/A N/A	1 in 194 N/A N/A N/A N/A	1 in 169 N/A N/A N/A N/A	1 in 194 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SLC9A3	Diarrhea 8, secretory sodium, congenital	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLC9A6	Mental retardation, X-linked syndromic, Christianson type	X-linked	General population	≤1 in 500	<1 in 735294	<1 in 1,000,000	-	-	1 in 4	-	-
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
SLITRK6	Deafness and myopia	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SLURP1	Meleda disease	Autosomal recessive	General population	≤1 in 500	<1 in 1833	<1 in 1,000,000	<1 in 1,000,000	<1 in 7330	<1 in 2000	<1 in 7330	1 in 4
SLX4	Fanconi anemia, complementation group P	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SMARCAL1	Schimke immunoosseous dysplasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 451 1 in 699 1 in 561 1 in 2565 1 in 2123	1 in 970 1 in 1506 1 in 1208 1 in 5525 1 in 4573	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3881 1 in 6022 1 in 4833 1 in 22098 1 in 18290	1 in 1804 1 in 2796 1 in 2244 1 in 10260 1 in 8492	1 in 3881 1 in 6022 1 in 4833 1 in 22098 1 in 18290	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SMARCD2	Specific granule deficiency 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SMC1A	Cornelia de Lange syndrome 2	X-linked	General population	≤1 in 500	<1 in 695652	<1 in 1,000,000	-	-	1 in 4	-	-
SMG9	Heart and brain malformation syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SMN1	Spinal muscular atrophy	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 36 1 in 72 1 in 53 1 in 103 1 in 68 1 in 53	1 in 869 1 in 244 1 in 757 1 in 792 1 in 680 1 in 565	1 in 124122 1 in 70292 1 in 160514 1 in 326431 1 in 184960 1 in 115013	<1 in 1,000,000 1 in 238276 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3475 1 in 976 1 in 3029 1 in 3169 1 in 2720 1 in 2261	1 in 143 1 in 288 1 in 212 1 in 412 1 in 272 1 in 203	1 in 3475 1 in 976 1 in 3029 1 in 3169 1 in 2720 1 in 2261	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SMOC1	Microphthalmia. with limb anomalies	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
SMOC2	Dentin dysplasia, type 1, with microdontia and misshapen teeth	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
SMPD1	Niemann-Pick disease, type A; Niemann-Pick disease, type B	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 350 1 in 120 1 in 81 1 in 327 1 in 106 1 in 103	1 in 1,556 1 in 535 1 in 361 1 in 1457 1 in 472 1 in 3366	<1 in 1,000,000 1 in 256582 1 in 116905 <1 in 1,000,000 1 in 200205 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 520759 <1 in 1,000,000 1 in 891823 <1 in 1,000,000	1 in 6223 1 in 2138 1 in 1443 1 in 5827 1 in 1889 1 in 13463	1 in 1400 1 in 480 1 in 324 1 in 1308 1 in 424 1 in 404	1 in 6223 1 in 2138 1 in 1443 1 in 5827 1 in 1889 1 in 13463	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SMPX	Deafness, X-linked, type 4	X-linked	General population	≤1 in 500	<1 in 1500000	<1 in 1,000,000	-	-	1 in 4	-	-
SMS	Mental retardation, X-linked, Snyder-Robinson type	X-linked	General population	≤1 in 500	<1 in 800000	<1 in 1,000,000	-	-	1 in 4	-	-
SNAI2	Waardenburg syndrome, type 2D	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
SNIP1	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SNORD118	Leukoencephalopathy, brain calcifications, and cysts	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SNX10	Osteopetrosis, autosomal recessive, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
SNX14	Spinocerebellar ataxia, autosomal recessive, type 20	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SOD1	Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclerosis, type 1	Autosomal recessive; Autosomal recessive*	General population	≤1 in 500	<1 in 1271	<1 in 1,000,000	<1 in 1,000,000	<1 in 5082	<1 in 2000	<1 in 5082	1 in 4
SOHLH1	Ovarian dysgenesis 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SOST	Sclerosteosis, type 1; Van Buchem disease	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
SOX18	Hypotrichosis-lymphedema-telangiectasia syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
SOX3	Panhypopituitarism, X-linked	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
SP110	Hepatic venoocclusive disease with immunodeficiency	Autosomal recessive	Caucasian/European population	1 in 941	1 in 1724	<1 in 1,000,000	<1 in 1,000,000	1 in 6897	1 in 3764	1 in 6897	1 in 4
SP7	Osteogenesis imperfecta, type XII	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SPAG1	Ciliary dyskinesia, primary, 28	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SPARC	Osteogenesis imperfecta, type XVII	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SPART	Spactic paraplegia, type 20, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 643	<1 in 1,000,000	<1 in 1,000,000	<1 in 2573	<1 in 2000	<1 in 2573	1 in 4
SPATA5	Epilepsy, hearing loss, and mental retardation syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SPATA7	Leber congenital amaurosis 3	Autosomal recessive	Caucasian/European population	1 in 433	1 in 636	<1 in 1,000,000	<1 in 1,000,000	1 in 2545	1 in 1732	1 in 2545	1 in 4
SPEG	Centronuclear myopathy 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SPG11	Amyotrophic lateral sclerosis, type 5, juvenile	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 192 1 in 232 1 in 297 1 in 267 1 in 64	1 in 467 1 in 566 1 in 725 1 in 652 1 in 156	1 in 358757 1 in 525425 1 in 861088 1 in 695916 1 in 39985	1 in 872845 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 97582	1 in 1869 1 in 2265 1 in 2899 1 in 2606 1 in 625	1 in 768 1 in 928 1 in 1188 1 in 1068 1 in 256	1 in 1869 1 in 2265 1 in 2899 1 in 2606 1 in 625	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SPG21	Mast syndrome	Autosomal recessive	Caucasian/European population	1 in 1679	1 in 2798	<1 in 1,000,000	<1 in 1,000,000	1 in 11191	1 in 6716	1 in 11191	1 in 4
SPG7	Spastic paraplegia, type 7, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 80 N/A N/A N/A N/A	1 in 183 N/A N/A N/A N/A	1 in 58265 N/A N/A N/A N/A	1 in 133654 N/A N/A N/A N/A	1 in 731 N/A N/A N/A N/A	1 in 319 N/A N/A N/A N/A	1 in 731 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SPINK1	Tropical calcific pancreatitis	Autosomal recessive*	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
SPINK5	Netherton syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 788	<1 in 1,000,000	<1 in 1,000,000	<1 in 3152	<1 in 2000	<1 in 3152	1 in 4
SPINT2	Diarrhea, type 3, secretory sodium, congenital, syndromic	Autosomal recessive	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
SPR	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	Autosomal recessive*	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
SPRTN	Ruijs-Aalfs syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SPTA1	Pyropoikilocytosis; Apherocytosis, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 673	<1 in 1,000,000	<1 in 1,000,000	<1 in 2694	<1 in 2000	<1 in 2694	1 in 4
SPTBN2	Spinocerebellar ataxia, autosomal recessive, type 14	Autosomal recessive	General population	≤1 in 500	<1 in 719	<1 in 1,000,000	<1 in 1,000,000	<1 in 2876	<1 in 2000	<1 in 2876	1 in 4
SPTBN4	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SQSTM1	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SRD5A2	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias)	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SRD5A3	Congenital disorder of glycosylation, type 1Q; Kahrizi syndrome	Autosomal recessive	General population	<1 in 500	<1 in 1400	<1 in 1,000,000	<1 in 1,000,000	<1 in 5598	<1 in 2000	<1 in 5598	1 in 4
SSR4	Congenital disorder of glycosylation, type Iy	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
ST14	Ichthyosis, congenital, autosomal recessive, type 11	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
ST3GAL3	Mental retardation, autosomal recessive 12	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ST3GAL5	Salt and pepper developmental regression syndrome	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
STAC3	Native American myopathy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
STAG3	Premature ovarian failure 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
STAMBP	Microcephaly-capillary malformation syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
STAR	Lipoid adrenal hyperplasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,147 1 in 964 1 in 364 1 in 1399 1 in 731	1 in 14,326 1 in 12050 1 in 4550 1 in 17488 1 in 9138	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 57304 1 in 48200 1 in 18200 1 in 69950 1 in 36550	1 in 4588 1 in 3856 1 in 1456 1 in 5596 1 in 2924	1 in 57304 1 in 48200 1 in 18200 1 in 69950 1 in 36550	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
STAT1	Immunodeficiency, type 31B, mycobacterial and viral infections, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 645	<1 in 1,000,000	<1 in 1,000,000	<1 in 2580	<1 in 2000	<1 in 2580	1 in 4
STAT2	Immunodeficiency 44	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
STAT5B	Laron syndrome with immunodeficiency	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
STIL	Microcephaly, type 7, primary, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 723	<1 in 1,000,000	<1 in 1,000,000	<1 in 2890	<1 in 2000	<1 in 2890	1 in 4
STIM1	Immunodeficiency, type 10	Autosomal recessive	General population	≤1 in 500	<1 in 650	<1 in 1,000,000	<1 in 1,000,000	<1 in 2601	<1 in 2000	<1 in 2601	1 in 4
STK4	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations	Autosomal recessive	Caucasian/European population	1 in 1021	1 in 1361	<1 in 1,000,000	<1 in 1,000,000	1 in 5444	1 in 4084	1 in 5444	1 in 4
STN1	Cerebroretinal microangiopathy with calcifications and cysts 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
STRA6	Microphthalmia, isolated, with coloboma, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 1042	<1 in 1,000,000	<1 in 1,000,000	<1 in 4167	<1 in 2000	<1 in 4167	1 in 4
STRADA	Polyhydramnios, megalencephaly, and symptomatic epilepsy	Autosomal recessive	General population	≤1 in 500	<1 in 550	<1 in 1,000,000	<1 in 1,000,000	<1 in 2202	<1 in 2000	<1 in 2202	1 in 4
STRC	Deafness, autosomal recessive, type 16	Autosomal recessive	Caucasian/European population	1 in 68	1 in 123	1 in 33504	1 in 60690	1 in 493	1 in 272	1 in 493	1 in 4
STS	Ichthyosis, X-linked	X-linked	General population	≤1 in 500	<1 in 2499999	<1 in 1,000,000	-	-	1 in 4	-	-
STUB1	Spinocerebellar ataxia, autosomal recessive, type 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
STX11	Hemophagocytic lymphohistiocytosis, familial, type 4	Autosomal recessive	Caucasian/European population	1 in 13964	1 in 24436	<1 in 1,000,000	<1 in 1,000,000	1 in 97745	1 in 55856	1 in 97745	1 in 4
STXBP2	Hemophagocytic lymphohistiocytosis, familial, type 5	Autosomal recessive	Caucasian/European population	1 in 406	1 in 659	<1 in 1,000,000	<1 in 1,000,000	1 in 2637	1 in 1624	1 in 2637	1 in 4
SUCLA2	Mitochondrial DNA depletion syndrome, type 5 (encephalomyopathic with or without methylmalonic aciduria)	Autosomal recessive	General population	≤1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
SUCLG1	Mitochondrial DNA depletion syndrome, type 9 (encephalomyopathic, type with methylmalonic aciduria)	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SUFU	Joubert syndrome, type 32; Medulloblastoma	Autosomal recessive; Autosomal dominant	General population	≤1 in 500	<1 in 773	<1 in 1,000,000	<1 in 1,000,000	<1 in 3092	<1 in 2000	<1 in 3092	1 in 4
SUGCT	Glutaric aciduria, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
SULT2B1	Ichthyosis, congenital, autosomal recessive, type 14	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
SUMF1	Multiple sulfatase deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 696 1 in 406 1 in 1437 1 in 834 1 in 1525 ≤1 in 279	1 in 2,665 1 in 1556 1 in 5509 1 in 3197 1 in 5846 1 in 9937	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10661 1 in 6225 1 in 22034 1 in 12788 1 in 23383 1 in 39746	1 in 2784 1 in 1624 1 in 5748 1 in 3336 1 in 6100 1 in 1192	1 in 10661 1 in 6225 1 in 22034 1 in 12788 1 in 23383 1 in 39746	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SUN5	Spermatogenic failure 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SUOX	Sulfite oxidase deficiency	Autosomal recessive	Caucasian/European population	1 in 1958	1 in 2377	<1 in 1,000,000	<1 in 1,000,000	1 in 9509	1 in 7832	1 in 9509	1 in 4
SURF1	Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 191 1 in 256 1 in 61 1 in 302 1 in 89	1 in 329 1 in 441 1 in 105 1 in 521 1 in 153	1 in 251040 1 in 451972 1 in 25662 1 in 628993 1 in 54628	1 in 431876 1 in 779263 1 in 44245 <1 in 1,000,000 1 in 94185	1 in 1314 1 in 1766 1 in 421 1 in 2083 1 in 614	1 in 764 1 in 1024 1 in 244 1 in 1208 1 in 356	1 in 1314 1 in 1766 1 in 421 1 in 2083 1 in 614	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 55,588 N/A N/A N/A N/A	1 in 222352 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
SYNE1	Spinocerebellar ataxia, autosomal recessive, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 906	<1 in 1,000,000	<1 in 1,000,000	<1 in 3622	<1 in 2000	<1 in 3622	1 in 4
SYNE4	Deafness, autosomal recessive 76	Autosomal recessive	Caucasian/European population	1 in 478	Reduced	Reduced	Reduced	Reduced	1 in 1912	Reduced	1 in 4
SYNJ1	Epileptic encephalopathy, early infantile, 53	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
SYP	Mental retardation, X-linked 96	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
SYT14	?Spinocerebellar ataxia, autosomal recessive, type 11	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
SZT2	Epileptic encephalopathy, early infantile, 18	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAC3	Hypogonadotropic hypogonadism, type 10, with or without anosmia	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
TACO1	Mitochondrial complex IV deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
TACR3	Hypogonadotropic hypogonadism, type 11, with or without anosmia	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
TACSTD2	Corneal dystrophy, gelatinous drop-like	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
TAF1	Mental retardation, X-linked, syndromic 33	X-linked	General population	≤1 in 500	<1 in 500001	<1 in 1,000,000	-	-	1 in 4	-	-
TAF13	Mental retardation, autosomal recessive 60	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAF2	Mental retardation, autosomal recessive 40	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAF6	Alazami-Yuan syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TALDO1	Transaldolase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
TANGO2	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAP1	Bare lymphocyte syndrome, type I	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAPBP	Bare lymphocyte syndrome, type I	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAPT1	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TAT	Tyrosinemia, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 2,190 1 in 5587 1 in 4450 1 in 2190 1 in 8126	1 in 5,352 1 in 13657 1 in 10878 1 in 5353 1 in 19864	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 21408 1 in 54628 1 in 43511 1 in 21413 1 in 79454	1 in 8760 1 in 22348 1 in 17800 1 in 8760 1 in 32504	1 in 21408 1 in 54628 1 in 43511 1 in 21413 1 in 79454	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TAZ	3-methylglutaconic aciduria, type 2 (Barth syndrome)	X-linked	General population	≤1 in 500	<1 in 964286	<1 in 1,000,000	-	-	1 in 4	-	-
TBC1D20	Warburg micro syndrome 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TBC1D23	Pontocerebellar hypoplasia, type 11	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TBC1D24	DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome; Epileptic encephalopathy, early infantile, type 16; Deafness, autosomal recessive, type 86	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TBCD	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TBCE	Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1	Autosomal recessive	General population	<1 in 500	<1 in 786	<1 in 1,000,000	<1 in 1,000,000	<1 in 3144	<1 in 2000	<1 in 3144	1 in 4
TBCK	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TBL1X	Hypothyroidism, congenital, nongoitrous, type 8	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
TBX15	Cousin syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TBX19	Congenital isolated adrenocorticotropic hormone deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1375	<1 in 1,000,000	<1 in 1,000,000	<1 in 5499	<1 in 2000	<1 in 5499	1 in 4
TBX21	Asthma and nasal polyps	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TBX22	Cleft palate with ankyloglossia	X-linked	General population	≤1 in 500	<1 in 1100000	<1 in 1,000,000	-	-	1 in 4	-	-
TBXAS1	Ghosal syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
TBXT	Sacral agenesis with vertebral anomalies	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TCAP	Limb-girdle muscular dystrophy, type 7 (LGMD R7)	Autosomal recessive	General population	≤1 in 500	<1 in 682	<1 in 1,000,000	<1 in 1,000,000	<1 in 2729	<1 in 2000	<1 in 2729	1 in 4
TCIRG1	Osteopetrosis, autosomal recessive, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 399 1 in 418 1 in 323 1 in 749 1 in 414 ≤1 in 350	1 in 1,195 1 in 1254 1 in 969 1 in 2247 1 in 1242 1 in 4087	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4780 1 in 5016 1 in 3876 1 in 8988 1 in 4968 1 in 16347	1 in 1596 1 in 1672 1 in 1292 1 in 2996 1 in 1656 1 in 1635	1 in 4780 1 in 5016 1 in 3876 1 in 8988 1 in 4968 1 in 16347	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TCN2	Transcobalamin II deficiency	Autosomal recessive	Caucasian/European population	1 in 1046	1 in 1481	<1 in 1,000,000	<1 in 1,000,000	1 in 5926	1 in 4184	1 in 5926	1 in 4
TCTN1	Joubert syndrome, type 13	Autosomal recessive	Caucasian/European population	1 in 520	1 in 953	<1 in 1,000,000	<1 in 1,000,000	1 in 3810	1 in 2080	1 in 3810	1 in 4
TCTN2	Joubert syndrome, type 24	Autosomal recessive	Caucasian/European population	1 in 1046	1 in 2672	<1 in 1,000,000	<1 in 1,000,000	1 in 10686	1 in 4184	1 in 10686	1 in 4
TCTN3	Joubert syndrome 18	Autosomal recessive	Caucasian/European population	1 in 487	Reduced	Reduced	Reduced	Reduced	1 in 1948	Reduced	1 in 4
TDP1	?Spinocerebellar ataxia, autosomal recessive with axonal neuropathy	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
TDP2	Spinocerebellar ataxia, autosomal recessive, type 23	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TDRD7	Cataract 36	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
TECPR2	Spastic paraplegia, type 49, autosomal recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,946 1 in 5649 1 in 823 1 in 5103 1 in 1983 1 in 152	N/A N/A N/A N/A N/A 1 in 5067	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A <1 in 1,000,000	N/A N/A N/A N/A N/A 1 in 20267	1 in 7784 1 in 22596 1 in 3292 1 in 20412 1 in 7932 1 in 608	N/A N/A N/A N/A N/A 1 in 20267	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TECR	Mental retardation, autosomal recessive, type 14	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
TECRL	Ventricular tachycardia, catecholaminergic polymorphic, 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TECTA	Deafness, autosomal recessive, type 21	Autosomal recessive	General population	≤1 in 500	<1 in 900	<1 in 1,000,000	<1 in 1,000,000	<1 in 3600	<1 in 2000	<1 in 3600	1 in 4
TELO2	You-Hoover-Fong syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TENM3	Microphthalmia, isolated, with coloboma 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TERT	Dyskeratosis congenita, autosomal recessive, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 705	<1 in 1,000,000	<1 in 1,000,000	<1 in 2819	<1 in 2000	<1 in 2819	1 in 4
TEX11	Spermatogenic failure, X-linked, 2	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
TEX15	Spermatogenic failure 25	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TF	Atransferrinemia	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
TFR2	Hemochromatosis, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 604 1 in 761 1 in 2749 1 in 1259 1 in 378	1 in 1,885 1 in 2378 1 in 8591 1 in 3934 1 in 1181	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 7542 1 in 9513 1 in 34363 1 in 15738 1 in 4725	1 in 2416 1 in 3044 1 in 10996 1 in 5036 1 in 1512	1 in 7542 1 in 9513 1 in 34363 1 in 15738 1 in 4725	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TFRC	Immunodeficiency 46	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TG	Thyroid dyshormonogenesis, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 159 N/A N/A N/A N/A	1 in 268 N/A N/A N/A N/A	1 in 170210 N/A N/A N/A N/A	1 in 286493 N/A N/A N/A N/A	1 in 1071 N/A N/A N/A N/A	1 in 636 N/A N/A N/A N/A	1 in 1071 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TGDS	Catel-Manzke syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TGM1	Ichthyosis, congenital, autosomal recessive, type 1	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 186 1 in 205 1 in 279 1 in 79 1 in 562	1 in 758 1 in 839 1 in 1141 1 in 323 1 in 2299	1 in 563817 1 in 687682 <1 in 1,000,000 1 in 102125 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 417786 <1 in 1,000,000	1 in 3031 1 in 3355 1 in 4565 1 in 1293 1 in 9196	1 in 744 1 in 820 1 in 1116 1 in 316 1 in 2248	1 in 3031 1 in 3355 1 in 4565 1 in 1293 1 in 9196	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TGM5	Peeling skin syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
TH	Segawa syndrome, recessive	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 856 1 in 809 1 in 306 1 in 2145 1 in 1121	1 in 2,566 1 in 2427 1 in 918 1 in 6435 1 in 3363	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 10264 1 in 9708 1 in 3672 1 in 25740 1 in 13452	1 in 3424 1 in 3236 1 in 1224 1 in 8580 1 in 4484	1 in 10264 1 in 9708 1 in 3672 1 in 25740 1 in 13452	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
THOC2	Mental retardation, X-linked 12	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
THOC6	Beaulieu-Boycott-Innes syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
THRB	Thyroid hormone resistance, autosomal recessive	Autosomal recessive	General population	1 in 101	1 in 1061	1 in 428644	<1 in 1,000,000	1 in 4244	1 in 404	1 in 4244	1 in 4
TIMM50	3-methylglutaconic aciduria, type 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TIMM8A	Mohr-Tranebjaerg syndrome	X-linked	General population	≤1 in 500	<1 in 2499999	<1 in 1,000,000	-	-	1 in 4	-	-
TIMMDC1	Mitochondrial complex I deficiency, AR	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TJP2	Cholestasis, progressive familial intrahepatic, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 891	<1 in 1,000,000	<1 in 1,000,000	<1 in 3566	<1 in 2000	<1 in 3566	1 in 4
TK2	Mitochondrial DNA depletion syndrome , type 2 (myopathic type)	Autosomal recessive	Caucasian/European population	1 in 730	1 in 2431	<1 in 1,000,000	<1 in 1,000,000	1 in 9724	1 in 2920	1 in 9724	1 in 4
TKT	Short stature, developmental delay, and congenital heart defects	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TLE6	Preimplantation embryonic lethality	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TMC1	Deafness, autosomal recessive, type 7	Autosomal recessive	General population	≤1 in 500	<1 in 1178	<1 in 1,000,000	<1 in 1,000,000	<1 in 4714	<1 in 2000	<1 in 4714	1 in 4
TMC6	Epidermodysplasia verruciformis	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
TMC8	Epidermodysplasia verruciformis	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
TMCO1	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
TMEM107	Meckel syndrome 13; Orofaciodigital syndrome, type 16	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TMEM126A	Optic atrophy 7	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
TMEM126B	Mitochondrial complex I deficiency, AR	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TMEM138	Joubert syndrome 16	Autosomal recessive	Caucasian/European population	1 in 5161	Reduced	Reduced	Reduced	Reduced	1 in 20644	Reduced	1 in 4
TMEM165	Congenital disorder of glycosylation, type 2K	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TMEM199	Congenital disorder of glycosylation, type 2P	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TMEM216	Joubert syndrome, type 2; Meckel syndrome, type 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 1,521 1 in 3364 N/A 1 in 3526 1 in 2035 1 in 92	1 in 152,001 1 in 336400 N/A 1 in 352600 1 in 203500 1 in 9200	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 608004 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 814000 1 in 36800	1 in 6084 1 in 13456 N/A 1 in 14104 1 in 8140 1 in 368	1 in 608004 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 814000 1 in 36800	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TMEM231	Joubert syndrome 20	Autosomal recessive	Caucasian/European population	1 in 560	Reduced	Reduced	Reduced	Reduced	1 in 2240	Reduced	1 in 4
TMEM237	Joubert syndrome, type 14	Autosomal recessive	Caucasian/European population	1 in 942	1 in 1413	<1 in 1,000,000	<1 in 1,000,000	1 in 5650	1 in 3768	1 in 5650	1 in 4
TMEM260	Structural heart defects and renal anomalies syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TMEM38B	Osteogenesis imperfecta, type XIV	Autosomal recessive	Caucasian/European population	1 in 2249	Reduced	Reduced	Reduced	Reduced	1 in 8996	Reduced	1 in 4
TMEM67	Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 147 1 in 233 1 in 132 1 in 206 1 in 309	1 in 284 1 in 451 1 in 256 1 in 399 1 in 599	1 in 166919 1 in 420740 1 in 135036 1 in 328879 1 in 739978	1 in 322340 1 in 815183 1 in 261632 1 in 637203 <1 in 1,000,000	1 in 1136 1 in 1806 1 in 1023 1 in 1597 1 in 2395	1 in 588 1 in 932 1 in 528 1 in 824 1 in 1236	1 in 1136 1 in 1806 1 in 1023 1 in 1597 1 in 2395	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TMEM70	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	Autosomal recessive	Caucasian/European population	1 in 632	1 in 948	<1 in 1,000,000	<1 in 1,000,000	1 in 3790	1 in 2528	1 in 3790	1 in 4
TMIE	Deafness, autosomal recessive, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
TMPRSS15	Enterokinase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1333	<1 in 1,000,000	<1 in 1,000,000	<1 in 5332	<1 in 2000	<1 in 5332	1 in 4
TMPRSS3	Deafness, autosomal recessive, type 8/10	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TMPRSS6	Iron-refractory iron deficiency anemia	Autosomal recessive	General population	≤1 in 500	<1 in 1416	<1 in 1,000,000	<1 in 1,000,000	<1 in 5665	<1 in 2000	<1 in 5665	1 in 4
TMTC3	Lissencephaly 8	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TNFRSF10B	Squamous cell carcinoma, head and neck	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TNFRSF11A	Osteopetrosis, autosomal recessive, type 7	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
TNFRSF11B	Paget disease of bone, type 5, juvenile-onset	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
TNFRSF13B	Immunodeficiency, common variable, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 723	<1 in 1,000,000	<1 in 1,000,000	<1 in 2890	<1 in 2000	<1 in 2890	1 in 4
TNFRSF13C	Immunodeficiency, common variable, 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TNFSF11	Osteopetrosis, autosomal recessive, type 2	Autosomal recessive	Caucasian/European population	1 in 2497	1 in 249601	<1 in 1,000,000	<1 in 1,000,000	1 in 998404	1 in 9988	1 in 998404	1 in 4
TNIK	Mental retardation, autosomal recessive 54	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TNNT1	Nemaline myopathy , type 5, Amish type	Autosomal recessive	General population	≤1 in 500	<1 in 715	<1 in 1,000,000	<1 in 1,000,000	<1 in 2858	<1 in 2000	<1 in 2858	1 in 4
TNXB	Ehlers-Danlos syndrome, classic-like	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
TOE1	Pontocerebellar hypoplasia, type 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TOP3A	Microcephaly, growth restriction, and increased sister chromatid exchange 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TP53RK	Galloway-Mowat syndrome 4	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TPI1	Hemolytic anemia due to triosephosphate isomerase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
TPK1	Episodic encephalopathy due to thiamine pyrophosphokinase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 1071	<1 in 1,000,000	<1 in 1,000,000	<1 in 4285	<1 in 2000	<1 in 4285	1 in 4
TPM3	Nemaline myopathy, type 1; Congenital fiber-type disproportion myopathy	Autosomal recessive*	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
TPO	Thyroid dyshormonogenesis, type 2A	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 72 N/A N/A N/A N/A	1 in 84 N/A N/A N/A N/A	1 in 24144 N/A N/A N/A N/A	1 in 28112 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 288 N/A N/A N/A N/A	1 in 335 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TPP1	Ceroid lipofuscinosis, neuronal, type 2; Spinocerebellar ataxia, autosomal recessive, type 7	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 266 1 in 833 1 in 1480 1 in 2199 1 in 568	1 in 1,591 1 in 4998 1 in 8880 1 in 13194 1 in 3408	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 6364 1 in 19992 1 in 35520 1 in 52776 1 in 13632	1 in 1064 1 in 3332 1 in 5920 1 in 8796 1 in 2272	1 in 6364 1 in 19992 1 in 35520 1 in 52776 1 in 13632	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TPRKB	Galloway-Mowat syndrome 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TPRN	Deafness, autosomal recessive, type 79	Autosomal recessive	General population	≤1 in 500	<1 in 643	<1 in 1,000,000	<1 in 1,000,000	<1 in 2573	<1 in 2000	<1 in 2573	1 in 4
TRAC	Immunodeficiency 7, TCR-alpha/beta deficient	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRAF3IP1	Senior-Loken syndrome, type 9	Autosomal recessive	General population	≤1 in 500	<1 in 688	<1 in 1,000,000	<1 in 1,000,000	<1 in 2751	<1 in 2000	<1 in 2751	1 in 4
TRAIP	Seckel syndrome, type 9	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRAPPC11	Limb-girdle muscular dystrophy, type 18 (LGMD R18)	Autosomal recessive	Caucasian/European population	1 in 271	Reduced	Reduced	Reduced	Reduced	1 in 1084	Reduced	1 in 4
TRAPPC12	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRAPPC2	Spondyloepiphyseal dysplasia tarda	X-linked	General population	≤1 in 500	<1 in 1333333	<1 in 1,000,000	-	-	1 in 4	-	-
TRAPPC4	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRAPPC6B	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRAPPC9	Mental retardation, autosomal recessive, type 13	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 51 N/A N/A N/A N/A	1 in 71 N/A N/A N/A N/A	1 in 14484 N/A N/A N/A N/A	1 in 20164 N/A N/A N/A N/A	1 in 284 N/A N/A N/A N/A	1 in 204 N/A N/A N/A N/A	1 in 284 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TREH	Trehalase deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TREM2	Nasu-Hakola disease	Autosomal recessive	General population	≤1 in 500	<1 in 2748	<1 in 1,000,000	<1 in 1,000,000	<1 in 10993	<1 in 2000	<1 in 10993	1 in 4
TREX1	Aicardi-Goutieres syndrome, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 98 N/A N/A N/A N/A	1 in 186 N/A N/A N/A N/A	1 in 73260 N/A N/A N/A N/A	1 in 138869 N/A N/A N/A N/A	1 in 745 N/A N/A N/A N/A	1 in 393 N/A N/A N/A N/A	1 in 745 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRH	Thyrotropin-releasing hormone deficiency	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRHR	Hypothyroidism, congenital, nongoitrous, type 7	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRIM2	Charcot-Marie-Tooth disease, type 2R	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRIM32	Limb-girdle muscular dystrophy, type 8 (LGMD R8)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 226 1 in 665 1 in 920 1 in 300 1 in 674	1 in 376 1 in 1108 1 in 1533 1 in 500 1 in 1123	1 in 339904 <1 in 1,000,000 <1 in 1,000,000 1 in 600000 <1 in 1,000,000	1 in 565504 <1 in 1,000,000 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000	1 in 1504 1 in 4433 1 in 6133 1 in 2000 1 in 4493	1 in 904 1 in 2660 1 in 3680 1 in 1200 1 in 2696	1 in 1504 1 in 4433 1 in 6133 1 in 2000 1 in 4493	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRIM37	Mulibrey nanism	Autosomal recessive	General African/African American East Asian South Asian Latino	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRIOBP	Deafness, autosomal recessive, type 28	Autosomal recessive	General population	≤1 in 500	<1 in 1077	<1 in 1,000,000	<1 in 1,000,000	<1 in 4307	<1 in 2000	<1 in 4307	1 in 4
TRIP11	Achondrogenesis, type 1A	Autosomal recessive	General population	≤1 in 500	<1 in 685	<1 in 1,000,000	<1 in 1,000,000	<1 in 2738	<1 in 2000	<1 in 2738	1 in 4
TRIP13	Mosaic variegated aneuploidy syndrome 3	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRIP4	Spinal muscular atrophy with congenital bone fractures 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRIT1	Combined oxidative phosphorylation deficiency 35	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRMT10A	Microcephaly, short stature, and impaired glucose metabolism 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRMT10C	Combined oxidative phosphorylation deficiency 30	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRMT5	Combined oxidative phosphorylation deficiency 26	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRMU	Liver failure, transient infantile	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 789 1 in 1045 1 in 920 1 in 300 1 in 606 1 in 1232 1 in 34	1 in 1,001 1 in 1326 1 in 1168 1 in 381 1 in 769 1 in 41067 1 in 170	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 456923 <1 in 1,000,000 <1 in 1,000,000 1 in 23120	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 579941 <1 in 1,000,000 <1 in 1,000,000 1 in 115600	1 in 4005 1 in 5305 1 in 4671 1 in 1523 1 in 3077 1 in 164267 1 in 680	1 in 3156 1 in 4180 1 in 3680 1 in 1200 1 in 2424 1 in 4928 1 in 136	1 in 4005 1 in 5305 1 in 4671 1 in 1523 1 in 3077 1 in 164267 1 in 680	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TRNT1	Retinitis pigmentosa and erythrocytic microcytosis	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TRPM1	Night blindness, congenital stationary (complete), type 1C, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 600	<1 in 1,000,000	<1 in 1,000,000	<1 in 2402	<1 in 2000	<1 in 2402	1 in 4
TRPM6	Familial hypomagnesemia with secondary hypocalcemia	Autosomal recessive	General population	≤1 in 500	<1 in 857	<1 in 1,000,000	<1 in 1,000,000	<1 in 3429	<1 in 2000	<1 in 3429	1 in 4
TRPV6	Hyperparathyroidism, transient neonatal	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TSEN15	Pontocerebellar hypoplasia, type 2F	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TSEN2	Pontocerebellar hypoplasia, type 2B	Autosomal recessive	Caucasian/European population	1 in 152	1 in 303	1 in 184224	1 in 367236	1 in 1212	1 in 608	1 in 1212	1 in 4
TSEN34	Pontocerebellar hypoplasia type 2C	Autosomal recessive	Caucasian/European population	1 in 2062	Reduced	Reduced	Reduced	Reduced	1 in 8248	Reduced	1 in 4
TSEN54	Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 223 1 in 491 1 in 186 1 in 686 1 in 260	1 in 3,997 1 in 8838 1 in 3348 1 in 12348 1 in 4680	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 15988 1 in 35352 1 in 13392 1 in 49392 1 in 18720	1 in 892 1 in 1964 1 in 744 1 in 2744 1 in 1040	1 in 15988 1 in 35352 1 in 13392 1 in 49392 1 in 18720	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSFM	Combined oxidative phosphorylation deficiency, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 535 1 in 681 N/A N/A 1 in 1796	1 in 611 1 in 778 N/A N/A 1 in 2053	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2445 1 in 3113 N/A N/A 1 in 8210	1 in 2140 1 in 2724 N/A N/A 1 in 7184	1 in 2445 1 in 3113 N/A N/A 1 in 8210	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSHB	Hypothyroidism, congenital, nongoitrous, type 4	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	1 in 306 N/A N/A N/A N/A	1 in 75675 N/A N/A N/A N/A	1 in 373488 N/A N/A N/A N/A	1 in 1222 N/A N/A N/A N/A	1 in 248 N/A N/A N/A N/A	1 in 1222 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSHR	Hypothyroidism, congenital, nongoitrous, type 1	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	1 in 189 N/A N/A N/A N/A	1 in 46876 N/A N/A N/A N/A	1 in 143306 N/A N/A N/A N/A	1 in 757 N/A N/A N/A N/A	1 in 248 N/A N/A N/A N/A	1 in 757 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TSPAN7	Mental retardation, X-linked, type 58	X-linked	General population	1 in 45000	1 in 4499901	<1 in 1,000,000	-	-	1 in 4	-	-
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TTC19	Mitochondrial complex III deficiency, nuclear type 2	Autosomal recessive	General population	≤1 in 500	<1 in 1375	<1 in 1,000,000	<1 in 1,000,000	<1 in 5499	<1 in 2000	<1 in 5499	1 in 4
TTC21B	Short-rib thoracic dysplasia, type 4, with or without polydactyly	Autosomal recessive	General population	≤1 in 500	<1 in 1100	<1 in 1,000,000	<1 in 1,000,000	<1 in 4400	<1 in 2000	<1 in 4400	1 in 4
TTC37	Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 634 1 in 640 1 in 171 1 in 213 1 in 625	1 in 951 1 in 960 1 in 257 1 in 320 1 in 938	<1 in 1,000,000 <1 in 1,000,000 1 in 175446 1 in 272214 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 263169 1 in 408321 <1 in 1,000,000	1 in 3802 1 in 3840 1 in 1026 1 in 1278 1 in 3750	1 in 2536 1 in 2560 1 in 684 1 in 852 1 in 2500	1 in 3802 1 in 3840 1 in 1026 1 in 1278 1 in 3750	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TTC7A	Gastrointestinal defects and immunodeficiency syndrome	Autosomal recessive	Caucasian/European population	1 in 54	Reduced	Reduced	Reduced	Reduced	1 in 216	Reduced	1 in 4
TTC8	Bardet-Biedl syndrome, type 8	Autosomal recessive	Caucasian/European population	1 in 962	1 in 1282	<1 in 1,000,000	<1 in 1,000,000	1 in 5129	1 in 3848	1 in 5129	1 in 4
TTI2	Mental retardation, autosomal recessive, type 39	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
TTLL5	Cone-rod dystrophy 19	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TTN	Limb-girdle muscular dystrophy type 10 (LGMDR10); Early-onset myopathy with fatal cardiomyopathy (Salih myopathy)	Autosomal recessive	General population	<1 in 500	<1 in 1019	<1 in 1,000,000	<1 in 1,000,000	<1 in 4075	<1 in 2000	<1 in 4075	1 in 4
TTPA	Ataxia with isolated vitamin E deficiency	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 607 1 in 319 N/A 1 in 2403 1 in 1293	1 in 3,637 1 in 1914 N/A 1 in 14418 1 in 7758	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000	1 in 14548 1 in 7656 N/A 1 in 57672 1 in 31032	1 in 2428 1 in 1276 N/A 1 in 9612 1 in 5172	1 in 14548 1 in 7656 N/A 1 in 57672 1 in 31032	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TUBA8	Cortical dysplasia, complex, with other brain malformations, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
TUBGCP4	Microcephaly and chorioretinopathy, autosomal recessive, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 711	<1 in 1,000,000	<1 in 1,000,000	<1 in 2843	<1 in 2000	<1 in 2843	1 in 4
TUFM	Combined oxidative phosphorylation deficiency 4	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
TULP1	Leber congenital amaurosis, type 15	Autosomal recessive	Caucasian/European population	1 in 1285	1 in 1793	<1 in 1,000,000	<1 in 1,000,000	1 in 7171	1 in 5140	1 in 7171	1 in 4
TUSC3	Mental retardation, autosomal recessive, type 7	Autosomal recessive	General population	<1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
TWIST2	Focal facial dermal dysplasia, type 3 (Setleis type)	Autosomal recessive	General population	≤1 in 500	<1 in 1167	<1 in 1,000,000	<1 in 1,000,000	<1 in 4666	<1 in 2000	<1 in 4666	1 in 4
TWNK	Mitochondrial DNA depletion syndrome, type 7 (hepatocerebral type); Perrault syndrome type 5	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
TXNL4A	Burn-McKeown syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
TYK2	Immunodeficiency, type 35	Autosomal recessive	General population	≤1 in 500	<1 in 2249	<1 in 1,000,000	<1 in 1,000,000	<1 in 8995	<1 in 2000	<1 in 8995	1 in 4
TYMP	Mitochondrial DNA depletion syndrome, type 1 (MNGIE type)	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 425 1 in 287 1 in 2873 1 in 1834 1 in 647 1 in 828 1 in 158	1 in 1,014 1 in 686 1 in 6867 1 in 4384 1 in 1546 1 in 27600 1 in 5267	<1 in 1,000,000 1 in 787528 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 4058 1 in 2744 1 in 27469 1 in 17535 1 in 6186 1 in 110400 1 in 21067	1 in 1700 1 in 1148 1 in 11492 1 in 7336 1 in 2588 1 in 3312 1 in 632	1 in 4058 1 in 2744 1 in 27469 1 in 17535 1 in 6186 1 in 110400 1 in 21067	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TYR	Oculocutaneous albinism (OCA) type 1A; OCA type 1B	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 101 1 in 100 N/A N/A 1 in 100	1 in 681 1 in 683 N/A N/A 1 in 683	1 in 273742 1 in 273333 N/A N/A 1 in 273333	<1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000	1 in 2724 1 in 2733 N/A N/A 1 in 2733	1 in 402 1 in 400 N/A N/A 1 in 400	1 in 2724 1 in 2733 N/A N/A 1 in 2733	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
TYROBP	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, type 1 (Nasu-Hakola disease)	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
TYRP1	Albinism, oculocutaneous, type 3	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,400 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 5598 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 5598 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UBA1	Spinal muscular atrophy, X-linked 2, infantile	X-linked	General population	≤1 in 500	<1 in 500001	<1 in 1,000,000	-	-	1 in 4	-	-
UBA5	Epileptic encephalopathy, early infantile, 44	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
UBE2A	Mental retardation, X-linked syndromic, Nascimento-type	X-linked	General population	≤1 in 500	<1 in 687500	<1 in 1,000,000	-	-	1 in 4	-	-
UBE2T	Fanconi anemia, complementation group T	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
UBE3A	Angelman syndrome	Autosomal dominant	General African/African American East Asian South Asian Latino	1 in 62 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 249 N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UBE3B	Kaufman oculocerebrofacial syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
UBQLN2	Amyotrophic lateral sclerosis, type 15, with or without frontotemporal dementia	X-linked	General population	≤1 in 500	<1 in 1000000	<1 in 1,000,000	-	-	1 in 4	-	-
UBR1	Johanson-Blizzard syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1250	<1 in 1,000,000	<1 in 1,000,000	<1 in 4999	<1 in 2000	<1 in 4999	1 in 4
UCHL1	Spastic paraplegia, type 79, autosomal recessive	Autosomal recessive	General population	≤1 in 500	<1 in 1999	<1 in 1,000,000	<1 in 1,000,000	<1 in 7996	<1 in 2000	<1 in 7996	1 in 4
UFM1	Leukodystrophy, hypomyelinating, 14	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
UGT1A1	Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2	Autosomal recessive	General African/African American East Asian South Asian Latino	1 in 500 N/A N/A N/A N/A	1 in 5,496 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 21982 N/A N/A N/A N/A	1 in 2002 N/A N/A N/A N/A	1 in 21982 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UMPS	Orotic aciduria	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
UNC13D	Hemophagocytic lymphohistiocytosis, familial, type 3	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 108 1 in 258 1 in 106 1 in 186 1 in 110	1 in 202 1 in 486 1 in 200 1 in 350 1 in 207	1 in 87442 1 in 501188 1 in 84600 1 in 260488 1 in 91106	1 in 163882 1 in 943412 1 in 159248 1 in 490329 1 in 171493	1 in 810 1 in 1943 1 in 798 1 in 1400 1 in 828	1 in 432 1 in 1032 1 in 424 1 in 744 1 in 440	1 in 810 1 in 1943 1 in 798 1 in 1400 1 in 828	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
UNC80	Hypotonia, infantile, with psychomotor retardation and characteristic facies, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 773	<1 in 1,000,000	<1 in 1,000,000	<1 in 3092	<1 in 2000	<1 in 3092	1 in 4
UNG	Immunodeficiency with hyper IgM, type 5	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
UPB1	Beta-ureidopropionase deficiency	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
UPF3B	Mental retardation, X-linked, syndromic, type 14	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 49,500 N/A N/A N/A N/A	1 in 198000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
UQCRB	Mitochondrial complex III deficiency, nuclear, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
UQCRC2	Mitochondrial complex III deficiency, nuclear type 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
UQCRQ	Mitochondrial complex III deficiency, nuclear, type 4	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
UROD	Porphyria cutanea tarda	Autosomal recessive	General population	≤1 in 500	<1 in 1143	<1 in 1,000,000	<1 in 1,000,000	<1 in 4571	<1 in 2000	<1 in 4571	1 in 4
UROS	Porphyria, congenital erythropoietic	Autosomal recessive	General population	≤1 in 500	<1 in 1749	<1 in 1,000,000	<1 in 1,000,000	<1 in 6997	<1 in 2000	<1 in 6997	1 in 4
USB1	Poikiloderma with neutropenia	Autosomal recessive	General population	≤1 in 500	<1 in 2499	<1 in 1,000,000	<1 in 1,000,000	<1 in 9994	<1 in 2000	<1 in 9994	1 in 4
USH1C	Usher syndrome, type 1C; Deafness, autosomal recessive, type 18A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 257 1 in 48 1 in 154 1 in 485 1 in 526	1 in 902 1 in 169 1 in 542 1 in 1707 1 in 1852	1 in 927379 1 in 32440 1 in 333921 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 1 in 114190 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 3608 1 in 676 1 in 2168 1 in 6829 1 in 7406	1 in 1028 1 in 192 1 in 616 1 in 1940 1 in 2104	1 in 3608 1 in 676 1 in 2168 1 in 6829 1 in 7406	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
USH1G	Usher syndrome, type 1G	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 4,124 1 in 1724 1 in 1983 1 in 1531 1 in 4696	1 in 9,242 1 in 3864 1 in 4445 1 in 3432 1 in 10526	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 36969 1 in 15457 1 in 17779 1 in 13726 1 in 42102	1 in 16496 1 in 6896 1 in 7932 1 in 6124 1 in 18784	1 in 36969 1 in 15457 1 in 17779 1 in 13726 1 in 42102	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
USH2A	Usher syndrome, type 2A	Autosomal recessive	General African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 60 1 in 69 1 in 27 1 in 68 1 in 51 1 in 40	1 in 173 1 in 199 1 in 78 1 in 196 1 in 147 1 in 800	1 in 41714 1 in 55001 1 in 8422 1 in 53419 1 in 30048 1 in 128000	1 in 119171 1 in 158850 1 in 24323 1 in 154279 1 in 86782 <1 in 1,000,000	1 in 690 1 in 797 1 in 312 1 in 786 1 in 589 1 in 3200	1 in 242 1 in 276 1 in 108 1 in 272 1 in 204 1 in 160	1 in 690 1 in 797 1 in 312 1 in 786 1 in 589 1 in 3200	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
USP18	Pseudo-TORCH syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
USP27X	Mental retardation, X-linked 105	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
USP9X	Mental retardation, X-linked, type 99; Mental retardation, X-linked, type 99, syndromic, female-restricted	X-linked	General population	1 in 45000	1 in 79285	1 in 317140	-	-	1 in 4	-	-
UVSSA	UV-sensitive syndrome, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
VAC14	Striatonigral degeneration, childhood-onset	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
VARS1	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
VARS2	Combined oxidative phosphorylation deficiency 20	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
VDR	Rickets, vitamin D-resistant, type 2A	Autosomal recessive	General population	≤1 in 500	<1 in 3165	<1 in 1,000,000	<1 in 1,000,000	<1 in 12658	<1 in 2000	<1 in 12658	1 in 4
VIPAS39	Arthrogryposis, renal dysfunction, and cholestasis 2	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
VKORC1	Vitamin K-dependent clotting factors, combined deficiency of, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, type 1	Autosomal recessive	Caucasian/European population	1 in 2026	1 in 22276	<1 in 1,000,000	<1 in 1,000,000	1 in 89104	1 in 8104	1 in 89104	1 in 4
VMA21	Myopathy, X-linked, with excessive autophagy	X-linked	General population	≤1 in 500	<1 in 583334	<1 in 1,000,000	-	-	1 in 4	-	-
VPS11	Leukodystrophy, hypomyelinating, 12	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
VPS13A	Choreoacanthocytosis	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 341 1 in 321 1 in 204 1 in 540 1 in 466 1 in 628	1 in 488 1 in 460 1 in 292 1 in 774 1 in 668 1 in 31400	1 in 666087 1 in 590768 1 in 238598 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 953878 1 in 846768 1 in 341991 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1953 1 in 1840 1 in 1170 1 in 3096 1 in 2672 1 in 125600	1 in 1364 1 in 1284 1 in 816 1 in 2160 1 in 1864 1 in 2512	1 in 1953 1 in 1840 1 in 1170 1 in 3096 1 in 2672 1 in 125600	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VPS13B	Cohen syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 224 1 in 500 1 in 255 1 in 313 1 in 500	1 in 610 1 in 1365 1 in 696 1 in 854 1 in 1365	1 in 546318 <1 in 1,000,000 1 in 710003 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 2439 1 in 5459 1 in 2784 1 in 3418 1 in 5459	1 in 896 1 in 2000 1 in 1020 1 in 1252 1 in 2000	1 in 2439 1 in 5459 1 in 2784 1 in 3418 1 in 5459	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VPS13C	Parkinson disease 23, autosomal recessive, early onset	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
VPS33A	Mucopolysaccharidosis-plus syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
VPS33B	Arthrogryposis, renal dysfunction and cholestasis, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 3331	<1 in 1,000,000	<1 in 1,000,000	<1 in 13324	<1 in 2000	<1 in 13324	1 in 4
VPS37A	Spastic paraplegia 53, autosomal recessive	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
VPS45	Neutropenia, severe congenital, type 5	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,634 1 in 1120 1 in 1099 1 in 1703 1 in 3351	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 6536 1 in 4480 1 in 4396 1 in 6812 1 in 13404	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VPS53	Pontocerebellar hypoplasia, type 2E	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 1,506 1 in 2317 1 in 943 1 in 1549 1 in 1577	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	N/A N/A N/A N/A N/A	1 in 6024 1 in 9268 1 in 3772 1 in 6196 1 in 6308	N/A N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VRK1	Pontocerebellar hypoplasia, type 1A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish	1 in 2,583 1 in 324 1 in 943 1 in 7488 1 in 8120 1 in 277	1 in 3,377 1 in 424 1 in 1233 1 in 9792 1 in 10618 1 in 1868	<1 in 1,000,000 1 in 549105 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 418598	<1 in 1,000,000 1 in 718061 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 13510 1 in 1695 1 in 4933 1 in 39168 1 in 42474 1 in 7471	1 in 10332 1 in 1296 1 in 3772 1 in 29952 1 in 32480 1 in 224	1 in 13510 1 in 1695 1 in 4933 1 in 39168 1 in 42474 1 in 7471	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VSX2	Microphthalmia with coloboma 3; Isolated microphthalmia 2	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish	1 in 1,337 1 in 1608 1 in 829 1 in 3960 1 in 2776 N/A 1 in 145	1 in 3,564 1 in 4288 1 in 2211 1 in 10560 1 in 7403 N/A 1 in 4833	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000	1 in 14255 1 in 17152 1 in 8843 1 in 42240 1 in 29611 N/A 1 in 19333	1 in 5348 1 in 6432 1 in 3316 1 in 15840 1 in 11104 N/A 1 in 580	1 in 14255 1 in 17152 1 in 8843 1 in 42240 1 in 29611 N/A 1 in 19333	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
VWF	von Willibrand disease, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 681	<1 in 1,000,000	<1 in 1,000,000	<1 in 2723	<1 in 2000	<1 in 2723	1 in 4
WARS2	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
WAS	Wiskott-Aldrich syndrome; Thrombocytopenia, X-linked	X-linked	General African/African American East Asian South Asian Latino	1 in 500,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
WASHC4	?Mental retardation, autosomal recessive, type 43	Autosomal recessive	General population	≤1 in 500	<1 in 625	<1 in 1,000,000	<1 in 1,000,000	<1 in 2502	<1 in 2000	<1 in 2502	1 in 4
WASHC5	Ritscher-Schinzel syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 534	<1 in 1,000,000	<1 in 1,000,000	<1 in 2135	<1 in 2000	<1 in 2135	1 in 4
WBP2	Deafness, autosomal recessive 107	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
WDR19	Nephronophthisis, type 13; Senior-Loken syndrome, type 8	Autosomal recessive	General population	≤1 in 500	<1 in 750	<1 in 1,000,000	<1 in 1,000,000	<1 in 3001	<1 in 2000	<1 in 3001	1 in 4
WDR35	Cranioectodermal dysplasia 2	Autosomal recessive	General population	≤1 in 500	<1 in 738	<1 in 1,000,000	<1 in 1,000,000	<1 in 2953	<1 in 2000	<1 in 2953	1 in 4
WDR45	Neurodegeneration with brain iron accumulation, type 5	X-linked	General population	≤1 in 500	<1 in 728814	<1 in 1,000,000	-	-	1 in 4	-	-
WDR45B	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
WDR62	Microcephaly, type 2, primary, autosomal recessive, with or without cortical malformations	Autosomal recessive	General population	≤1 in 500	<1 in 980	<1 in 1,000,000	<1 in 1,000,000	<1 in 3920	<1 in 2000	<1 in 3920	1 in 4
WDR72	Amelogenesis imperfecta, type 2A3 (hypomaturation type)	Autosomal recessive	General population	≤1 in 500	<1 in 1500	<1 in 1,000,000	<1 in 1,000,000	<1 in 5998	<1 in 2000	<1 in 5998	1 in 4
WDR73	Galloway-Mowat syndrome 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
WEE2	Oocyte maturation defect 5	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
WFS1	Wolfram syndrome, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 766	<1 in 1,000,000	<1 in 1,000,000	<1 in 3065	<1 in 2000	<1 in 3065	1 in 4
WHRN	Usher syndrome, type 2D; Deafness, autosomal recessive, type 31	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 93 1 in 5751 1 in 1526 1 in 940 1 in 2074	1 in 127 1 in 7842 1 in 2081 1 in 1282 1 in 2828	1 in 47150 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 64111 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 506 1 in 31369 1 in 8324 1 in 5127 1 in 11313	1 in 372 1 in 23004 1 in 6104 1 in 3760 1 in 8296	1 in 506 1 in 31369 1 in 8324 1 in 5127 1 in 11313	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
WIPF1	?Wiskott-Aldrich syndrome 2	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
WNK1	Neuropathy, hereditary sensory and autonomic, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 736	<1 in 1,000,000	<1 in 1,000,000	<1 in 2942	<1 in 2000	<1 in 2942	1 in 4
WNT1	Osteogenesis imperfecta, type XV	Autosomal recessive	Caucasian/European population	1 in 2536	Reduced	Reduced	Reduced	Reduced	1 in 10144	Reduced	1 in 4
WNT10A	Odontoonychodermal dysplasia	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 216 1 in 766 1 in 594 1 in 952 1 in 869	1 in 324 1 in 1149 1 in 891 1 in 1428 1 in 1304	1 in 279504 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 418609 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 1294 1 in 4596 1 in 3564 1 in 5712 1 in 5214	1 in 864 1 in 3064 1 in 2376 1 in 3808 1 in 3476	1 in 1294 1 in 4596 1 in 3564 1 in 5712 1 in 5214	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
WNT10B	Split-hand/foot malformation, type 6	Autosomal recessive	General population	≤1 in 500	<1 in 612	<1 in 1,000,000	<1 in 1,000,000	<1 in 2446	<1 in 2000	<1 in 2446	1 in 4
WNT3	?Tetra-amelia syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
WNT7A	Fuhrmann syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 1000	<1 in 1,000,000	<1 in 1,000,000	<1 in 4000	<1 in 2000	<1 in 4000	1 in 4
WRAP53	Dyskeratosis congenita, autosomal recessive, type 3	Autosomal recessive	General population	≤1 in 500	<1 in 834	<1 in 1,000,000	<1 in 1,000,000	<1 in 3334	<1 in 2000	<1 in 3334	1 in 4
WRN	Werner syndrome	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 474 1 in 491 1 in 253 1 in 355 1 in 979	1 in 681 1 in 705 1 in 364 1 in 510 1 in 1407	<1 in 1,000,000 <1 in 1,000,000 1 in 367868 1 in 724282 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 1 in 528546 <1 in 1,000,000 <1 in 1,000,000	1 in 2722 1 in 2822 1 in 1454 1 in 2040 1 in 5626	1 in 1896 1 in 1964 1 in 1012 1 in 1420 1 in 3916	1 in 2722 1 in 2822 1 in 1454 1 in 2040 1 in 5626	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
WWOX	Epileptic encephalopathy, early infantile, type 28; Spinocerebellar ataxia, autosomal recessive, type 12	Autosomal recessive	General population	≤1 in 500	<1 in 1307	<1 in 1,000,000	<1 in 1,000,000	<1 in 5230	<1 in 2000	<1 in 5230	1 in 4
XDH	Xanthinuria, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 1125	<1 in 1,000,000	<1 in 1,000,000	<1 in 4500	<1 in 2000	<1 in 4500	1 in 4
XIAP	Lymphoproliferative syndrome, X-linked, 2	X-linked	General population	≤1 in 500	<1 in 875000	<1 in 1,000,000	-	-	1 in 4	-	-
XK	McLeod syndrome with or without chronic granulomatous disease	X-linked	General population	≤1 in 500	<1 in 700000	<1 in 1,000,000	-	-	1 in 4	-	-
XPA	Xeroderma pigmentosum, group A	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 718 1 in 1417 1 in 100 1 in 280 1 in 200	1 in 4,877 1 in 9636 1 in 680 1 in 1904 1 in 1360	<1 in 1,000,000 <1 in 1,000,000 1 in 272000 <1 in 1,000,000 <1 in 1,000,000	<1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000	1 in 19506 1 in 38542 1 in 2720 1 in 7616 1 in 5440	1 in 2872 1 in 5668 1 in 400 1 in 1120 1 in 800	1 in 19506 1 in 38542 1 in 2720 1 in 7616 1 in 5440	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
XPC	Xeroderma pigmentosum, group C	Autosomal recessive	Caucasian/European African/African American East Asian South Asian Latino	1 in 440 1 in 123 1 in 2906 1 in 462 1 in 19	1 in 1,635 1 in 458 1 in 10817 1 in 1720 1 in 71	<1 in 1,000,000 1 in 225254 <1 in 1,000,000 <1 in 1,000,000 1 in 5375	<1 in 1,000,000 1 in 838445 <1 in 1,000,000 <1 in 1,000,000 1 in 20007	1 in 6540 1 in 1831 1 in 43267 1 in 6879 1 in 283	1 in 1760 1 in 492 1 in 11624 1 in 1848 1 in 76	1 in 6540 1 in 1831 1 in 43267 1 in 6879 1 in 283	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
XPNPEP3	Nephronophthisis-like nephropathy, type 1	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
XRCC4	Short stature, microcephaly, and endocrine dysfunction	Autosomal recessive	General population	≤1 in 500	<1 in 4497	<1 in 1,000,000	<1 in 1,000,000	<1 in 17986	<1 in 2000	<1 in 17986	1 in 4
XYLT1	Desbuquois dysplasia, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 667	<1 in 1,000,000	<1 in 1,000,000	<1 in 2668	<1 in 2000	<1 in 2668	1 in 4
XYLT2	Spondyloocular syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 700	<1 in 1,000,000	<1 in 1,000,000	<1 in 2801	<1 in 2000	<1 in 2801	1 in 4
YARS2	Myopathy, lactic acidosis, and sideroblastic anemia, type 2	Autosomal recessive	General population	≤1 in 500	<1 in 579	<1 in 1,000,000	<1 in 1,000,000	<1 in 2317	<1 in 2000	<1 in 2317	1 in 4
YY1AP1	Grange syndrome	Autosomal recessive	General population	≤1 in 500	<1 in 875	<1 in 1,000,000	<1 in 1,000,000	<1 in 3501	<1 in 2000	<1 in 3501	1 in 4
ZAP70	Autoimmune disease, multisystem, infantile-onset, type 2; Immunodeficiency, type 48	Autosomal recessive	Caucasian/European population	1 in 1453	1 in 3066	<1 in 1,000,000	<1 in 1,000,000	1 in 12265	1 in 5812	1 in 12265	1 in 4
ZBTB16	Skeletal defects, genital hypoplasia, and mental retardation	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
ZBTB24	Immunodeficiency-centromeric instability-facial anomalies syndrome, type 2	Autosomal recessive	Caucasian/European population	1 in 2817	1 in 4426	<1 in 1,000,000	<1 in 1,000,000	1 in 17705	1 in 11268	1 in 17705	1 in 4
ZC3H14	Mental retardation, autosomal recessive, type 56	Autosomal recessive	General population	≤1 in 500	<1 in 49951	<1 in 1,000,000	<1 in 1,000,000	<1 in 199804	<1 in 2000	<1 in 199804	1 in 4
ZC4H2	Wieacker-Wolff syndrome	X-linked	General population	≤1 in 500	Reduced	Reduced	-	-	1 in 4	-	-
ZDHHC9	Mental retardation, X-linked syndromic, Raymond type	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 60,000 N/A N/A N/A N/A	1 in 239999 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ZFYVE26	Spastic paraplegia, type 15, autosomal recessive	Autosomal recessive	General African/African American East Asian South Asian Latino	<1 in 500 N/A N/A N/A N/A	<1 in 1,600 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	<1 in 1,000,000 N/A N/A N/A N/A	1 in 6426 N/A N/A N/A N/A	1 in 2000 N/A N/A N/A N/A	1 in 6426 N/A N/A N/A N/A	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4
ZIC3	Heterotaxy, visceral, 1, X-linked; X-linked VACTERL syndrome with or without hydrocephalus	X-linked	General population	≤1 in 500	<1 in 700000	<1 in 1,000,000	-	-	1 in 4	-	-
ZMPSTE24	Mandibuloacral dysplasia with, type B lipodystrophy	Autosomal recessive	General population	≤1 in 500	<1 in 3747	<1 in 1,000,000	<1 in 1,000,000	<1 in 14989	<1 in 2000	<1 in 14989	1 in 4
ZMYND10	Ciliary dyskinesia, primary, type 22	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ZNF408	Retinitis pigmentosa, type 72	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ZNF423	Joubert syndrome, type 19	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ZNF469	Brittle cornea syndrome, type 1	Autosomal recessive	Caucasian/European population	1 in 243	1 in 256	1 in 249264	1 in 263055	1 in 1026	1 in 972	1 in 1026	1 in 4
ZNF711	Mental retardation, X-linked, type 97	X-linked	General African/African American East Asian South Asian Latino	1 in 45,000 N/A N/A N/A N/A	1 in 54,000 N/A N/A N/A N/A	1 in 215999 N/A N/A N/A N/A	- - - - -	- - - - -	1 in 4 1 in 4 1 in 4 1 in 4 1 in 4	- - - - -	- - - - -
ZNHIT3	PEHO syndrome	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4
ZP1	Oocyte maturation defect, type 1	Autosomal recessive	General population	≤1 in 500	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced	1 in 4