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 |