CGT: Tests list

Select your test and find the gene, mutations and diseases related to them.

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geneOMIM genechromPrevious symbolOMIM phenotypePhenotypeMOI
AAAS60537812231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
AARS160106516AARS616339Epileptic encephalopathy, early infantile, type 29Autosomal recessive
AARS26120356614096; 615889Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failureAutosomal recessive
AASS6051137238700; 268700Hyperlysinemia, type 1 and type 2Autosomal recessive
ABAT13715016613163GABA-transaminase deficiencyAutosomal recessive
ABCA16000469205400Tangier diseaseAutosomal recessive
ABCA126078002601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
ABCA360161516610921Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
ABCA46016911248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
ABCB116032012605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
ABCB41710607602347Cholestasis, progressive familial intrahepatic, type 3Autosomal recessive
ABCC260110710237500Dubin-Johnson syndromeAutosomal recessive
ABCC660323416264800; 614473Pseudoxanthoma elasticum; Generalized arterial calcification of infancy, type 2Autosomal recessive
ABCC860050911256450*; 606176*Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
ABCD1300371X300100AdrenoleukodystrophyX-linked
ABCD460321414614857Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
ABCG56054592210250SitosterolemiaAutosomal recessive
ABCG86054602210250SitosterolemiaAutosomal recessive
ABHD1261359920612674PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract)Autosomal recessive
ABHD56047803275630Chanarin-Dorfman syndromeAutosomal recessive
ACAD860477311611283Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
ACAD96111033611126Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
ACADM6070081201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
ACADS60688512201470Short-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
ACADSB60030110610006Short/branched-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
ACADVL60957517201475Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency Autosomal recessive
ACAT160780911203750Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)Autosomal recessive
ACE10618017267430Renal tubular dysgenesisAutosomal recessive
ACO210085022614559Infantile cerebellar-retinal degenerationAutosomal recessive
ACOX160975117264470Peroxisomal acyl-CoA oxidase deficiencyAutosomal recessive
ACOX26016413617308Bile acid synthesis defect, congenital, type 6Autosomal recessive
ACP517164019607944Spondyloenchondrodysplasia with immune dysregulationAutosomal recessive
ACSF361424516614265Combined malonic and methylmalonic aciduriaAutosomal recessive
ACTA11026101161800*; 255310*Nemaline myopathy 3; Congenital fiber-type disproportion myopathy 1Autosomal recessive*
ACY11046203609924Aminoacylase 1 deficiencyAutosomal recessive
ADA60895820102700Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA)Autosomal recessive
ADA260757522CECR1615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndromeAutosomal recessive
ADAM96027138612775Cone-rod dystrophy 9Autosomal recessive
ADAMTS1060899019277600Weill-Marchesani syndrome, type 1, recessiveAutosomal recessive
ADAMTS136041349274150Thrombotic thrombocytopenic purpura, familial (Schulman-Upshaw syndrome)Autosomal recessive
ADAMTS1760751115613195Weill-Marchesani syndrome, type 4, recessiveAutosomal recessive
ADAMTS1860751216615458Microcornea, myopic chorioretinal atrophy, and telecanthusAutosomal recessive
ADAMTS26045395225410Ehlers-Danlos syndrome, dermatosparaxis typeAutosomal recessive
ADAMTSL26122779231050Geleophysic dysplasia type 1Autosomal recessive
ADAMTSL46101131225200; 225100Ectopia lentis et pupillae; Ectopia lentis, isolated, type 2Autosomal recessive
ADAR1469201615010Aicardi-Goutieres syndrome, type 6Autosomal recessive
ADAT361530219615286Mental retardation, autosomal recessive 36Autosomal recessive
ADGRG160411016GPR56606854Polymicrogyria, bilateral frontoparietalAutosomal recessive
ADGRG66122436GPR126616503Lethal congenital contracture syndrome 9Autosomal recessive
ADGRV16028515GPR98605472Usher syndrome, type 2CAutosomal recessive, digenic inheritance (PDZD7 gene)
ADK10275010614300Hypermethioninemia due to adenosine kinase deficiencyAutosomal recessive
ADSL60822222103050Adenylosuccinase deficiencyAutosomal recessive
ADSS161249814ADSSL1617030Myopathy, distal, 5Autosomal recessive
AFG3L260458118614487Spastic ataxia, type 5, autosomal recessiveAutosomal recessive
AFP1041504615969Alpha-fetoprotein deficiencyAutosomal recessive
AGA6132284208400Aspartylglucosaminuria (glycosylasparaginase deficiency)Autosomal recessive
AGBL56159002617023Retinitis pigmentosa 75Autosomal recessive
AGK6103457614691; 212350Cataract 38; Sengers syndromeAutosomal recessive
AGL6108601232400Glycogen storage disease, type 3Autosomal recessive
AGPAT26031009608594Congenital generalized lipodystrophy (Berardinelli-Seip syndrome)Autosomal recessive
AGPS6030512600121Rhizomelic chondrodysplasia punctata, type 3Autosomal recessive
AGRN1033201615120Myasthenic syndrome, congenital, type 8Autosomal recessive
AGT1061501267430Renal tubular dysgenesisAutosomal recessive
AGTR11061653267430Renal tubular dysgenesisAutosomal recessive
AGXT6042852259900Hyperoxaluria, primary, type 1Autosomal recessive
AHCY18096020613752Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolaseAutosomal recessive
AHI16088946608629Joubert syndrome, type 3Autosomal recessive
AICDA60525712605258Immunodeficiency with hyper-IgM, type 2Autosomal recessive
AIMP16036054260600Leukodystrophy, hypomyelinating, type 3Autosomal recessive
AIMP26008597618006Leukodystrophy, hypomyelinating, type 17Autosomal recessive
AIPL160439217604393Leber congenital amaurosis, type 4 Autosomal recessive
AIRE60735821240300*Autoimmune polyendocrinopathy syndrome, type 1Autosomal recessive*
AK11030009612631Hemolytic anemia due to adenylate kinase deficiencyAutosomal recessive
AK21030201267500Reticular dysgenesisAutosomal recessive
AKR1C26004501061427946,XY disorder of sex development due to testicular 17,20-desmolase deficiencyAutosomal recessive
AKR1D16047417235555Bile acid synthesis defect, congenital, type 2Autosomal recessive
ALAD1252709612740Porphyria, acute hepaticAutosomal recessive
ALB1036004616000AnalbuminemiaAutosomal recessive
ALDH18A113825010616586; 219150Spastic paraplegia, type 9B, autosomal recessive; Cutis laxa, type 3A (De Barsy syndrome)Autosomal recessive
ALDH1A360046315615113Microphthalmia, isolated 8Autosomal recessive
ALDH3A260952317270200Sjogren-Larsson syndromeAutosomal recessive
ALDH4A16068111239510Hyperprolinemia, type 2Autosomal recessive
ALDH5A16100456271980Succinic semialdehyde dehydrogenase deficiencyAutosomal recessive
ALDH6A160317814614105Methylmalonate semialdehyde dehydrogenase deficiencyAutosomal recessive
ALDH7A11073235266100Epilepsy, pyridoxine-dependentAutosomal recessive
ALDOA10385016611881Glycogen storage disease type 12Autosomal recessive
ALDOB6127249229600Fructose intolerance, hereditaryAutosomal recessive
ALG160590716608540Congenital disorder of glycosylation, type 1KAutosomal recessive
ALG1161366613613661Congenital disorder of glycosylation, type 1PAutosomal recessive
ALG1260714422607143Congenital disorder of glycosylation, type 1GAutosomal recessive
ALG26079059616228Myasthenic syndrome, congenital, type 14, with tubular aggregatesAutosomal recessive
ALG36087503601110Congenital disorder of glycosylation, type 1DAutosomal recessive
ALG66045661603147Congenital disorder of glycosylation, type 1CAutosomal recessive
ALG860810311608104Congenital disorder of glycosylation, type 1HAutosomal recessive
ALG960694111608776; 263210Congenital disorder of glycosylation, type 1L; Gillessen-Kaesbach-Nishimura syndromeAutosomal recessive
ALMS16068442203800Alstr”m syndromeAutosomal recessive
ALOX12B60374117242100Ichthyosis, congenital, autosomal recessive, type 2Autosomal recessive
ALOXE360720617606545Ichthyosis, congenital, autosomal recessive, type 3Autosomal recessive
ALPK361760815618052Cardiomyopathy, familial hypertrophic, type 27Autosomal recessive
ALPL1717601241500; 241510Hypophosphatasia, infantile/childhoodAutosomal recessive
ALS26063522205100; 606353; 607225Amyotrophic lateral sclerosis, type 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascendingAutosomal recessive
ALX160152712613456Frontonasal dysplasia, type 3Autosomal recessive
ALX36060141136760Frontonasal dysplasia, type 1Autosomal recessive
ALX460542011613451Frontonasal dysplasia, type 2Autosomal recessive
AMACR6044895214950; 614307Bile acid synthesis defect, congenital, type 4; Alpha-methylacyl-CoA racemase deficiencyAutosomal recessive
AMBN6012594616270Amelogenesis imperfecta, type IFAutosomal recessive
AMH60095719261550Persistent Mullerian duct syndrome, type 1Autosomal recessive
AMHR260095612261550Persistent Mullerian duct syndrome, type IIAutosomal recessive
AMN60579914261100Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome)Autosomal recessive
AMPD11027701615511Myopathy due to myoadenylate deaminase deficiencyAutosomal recessive
AMPD21027711615809Pontocerebellar hypoplasia, type 9Autosomal recessive
AMT2383103605899Glycine encephalopathyAutosomal recessive
ANGPTL36047741605019Hypobetalipoproteinemia, familial, type 2Autosomal recessive
ANKS66153709615382Nephronophthisis 16Autosomal recessive
ANO106137263613728Spinocerebellar ataxia, autosomal recessive, type 10Autosomal recessive
ANO560866211611307Limb-girdle muscular dystrophy, type 12 (LGMD R12)Autosomal recessive
ANTXR16064102230740GAPO syndromeAutosomal recessive
ANTXR26080414228600Hyaline fibromatosis syndromeAutosomal recessive
AP1S16035317609313MEDNIK syndromeAutosomal recessive
AP1S2300629X304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
AP3B16034015608233Hermansky-Pudlak syndrome, type 2Autosomal recessive
AP3B260216615617276Epileptic encephalopathy, early infantile, type 48Autosomal recessive
AP3D160724619617050?Hermansky-Pudlak syndrome, type 10Autosomal recessive
AP4B16072451614066Spastic paraplegia, type 47, autosomal recessiveAutosomal recessive
AP4E160724415613744Spastic paraplegia, type 51, autosomal recessiveAutosomal recessive
AP4M16022967612936Spastic paraplegia, type 50, autosomal recessiveAutosomal recessive
AP4S160724314614067Spastic paraplegia, type 52, autosomal recessiveAutosomal recessive
AP5Z16136537613647Spastic paraplegia, type 48, autosomal recessiveAutosomal recessive
APOC260808319207750Hyperlipoproteinemia, type 1BAutosomal recessive
APOE10774119269600Sea-blue histiocyte diseaseAutosomal recessive
APRT10260016614723Adenine phosphoribosyltransferase deficiencyAutosomal recessive
APTX6063509208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAutosomal recessive
AQP210777712125800*Diabetes insipidus, nephrogenic, type 2Autosomal recessive*
AR313700X300068Androgen insensitivity syndrome, completeX-linked
ARFGEF260537120608097Periventricular heterotopia with microcephalyAutosomal recessive
ARG16083136207800Argininemia (arginase deficiency)Autosomal recessive
ARHGDIA60192517615244Nephrotic syndrome, type 8Autosomal recessive
ARHGEF1861643219617433Retinitis pigmentosa 78Autosomal recessive
ARL13B6089223612291Joubert syndrome type 8Autosomal recessive
ARL2BP61540716615434Retinitis pigmentosa with or without situs inversusAutosomal recessive
ARL66088453600151Bardet-Biedl syndrome, type 3Autosomal recessive
ARMC96176122617622Joubert syndrome 30Autosomal recessive
ARPC1B6042237617718Immunodeficiency, type 71, with inflammatory disease and congenital thrombocytopeniaAutosomal recessive
ARSA60757422250100Metachromatic leukodystrophyAutosomal recessive
ARSB6115425253200Mucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)Autosomal recessive
ARSL300180XARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
ARV16116471617020Epileptic encephalopathy, early infantile, 38Autosomal recessive
ARX300382X308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
ASAH16134688228000; 159950Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsyAutosomal recessive
ASL6083107207900Argininosuccinic aciduriaAutosomal recessive
ASNS1083707615574Asparagine synthetase deficiencyAutosomal recessive
ASPA60803417271900Canavan diseaseAutosomal recessive
ASPH6005828601552Traboulsi syndromeAutosomal recessive
ASPM6054811608716Primary microcephaly type 5, autosomal recessiveAutosomal recessive
ASS16034709215700Citrullinemia, type 1Autosomal recessive
ATAD161445210618011Hyperekplexia 4Autosomal recessive
ATF66055371616517Achromatopsia, type 7Autosomal recessive
ATIC6017312608688AICA-ribosiduria due to ATIC deficiencyAutosomal recessive
ATM60758511208900Ataxia-telangiectasiaAutosomal recessive
ATOH760987510221900Persistent hyperplastic primary vitreous, autosomal recessiveAutosomal recessive
ATP13A26105131606693; 617225Kufor-Rakeb syndrome; Spastic paraplegia, type 78, autosomal recessiveAutosomal recessive
ATP2A110873016601003Brody myopathyAutosomal recessive
ATP6V0A261171612219200; 278250Cutis laxa, autosomal recessive, type 2A; Wrinkly skin syndrome Autosomal recessive
ATP6V0A46052397602722Renal tubular acidosis, distal, autosomal recessiveAutosomal recessive
ATP6V1A6070273617403Cutis laxa, autosomal recessive, type 2DAutosomal recessive
ATP6V1B11921322267300Renal tubular acidosis with deafnessAutosomal recessive
ATP6V1E110874622617402Cutis laxa, autosomal recessive, type 2CAutosomal recessive
ATP7A300011X309400; 304150Menkes disease; Occipital horn syndromeX-linked
ATP7B60688213277900Wilson diseaseAutosomal recessive
ATP8B160239718211600; 243300Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1Autosomal recessive
ATR6012153210600Seckel syndrome, type 1Autosomal recessive
ATRX300032X309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
AUH60052992509503-methylglutaconic aciduria, type 1Autosomal recessive
AURKC60349519243060Spermatogenic failure, type 5Autosomal recessive
AVIL61339712618594Nephrotic syndrome, type 21Autosomal recessive
B2M10970015241600Immunodeficiency, type 43Autosomal recessive
B3GALNT26101941615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11Autosomal recessive
B3GALT66152911615349Ehlers-Danlos syndrome, spondylodysplastic type, 2Autosomal recessive
B3GAT360637411245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsAutosomal recessive
B3GLCT61030813B3GALTL261540Peters-plus syndromeAutosomal recessive
B4GALNT160187312609195Spastic paraplegia, type 26, autosomal recessiveAutosomal recessive
B4GALT11370609607091Congenital disorder of glycosylation, type 2DAutosomal recessive
B4GALT76043275130070Ehlers-Danlos syndrome, spondylodysplastic, type 1Autosomal recessive
B4GAT160551711B3GNT1615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13Autosomal recessive
B9D161414417617120; 614209Joubert syndrome, type 27; ?Meckel syndrome 9Autosomal recessive
B9D261195119614175; 614175Joubert syndrome, type 34; ?Meckel syndrome, type 10Autosomal recessive
BBS120990111209900Bardet-Biedl syndrome, type 1Autosomal recessive
BBS1061014812615987Bardet-Biedl syndrome, type 10Autosomal recessive
BBS126106834615989Bardet-Biedl syndrome, type 12Autosomal recessive
BBS260615116615981Bardet-Biedl syndrome, type 2Autosomal recessive
BBS460037415615982Bardet-Biedl syndrome, type 4Autosomal recessive
BBS56036502615983Bardet-Biedl syndrome, type 5Autosomal recessive
BBS76075904615984Bardet-Biedl syndrome, type 7Autosomal recessive
BBS96079687615986Bardet-Biedl syndrome, type 9Autosomal recessive
BCAT211353019618850?Hypervalinemia or hyperleucine-isoleucinemiaAutosomal recessive
BCHE1774003617936Butyrylcholinesterase deficiencyAutosomal recessive
BCKDHA60834819248600Maple syrup urine disease, type 1AAutosomal recessive
BCKDHB2486116248600Maple syrup urine disease, type 1BAutosomal recessive
BCKDK61490116614923Branched-chain ketoacid dehydrogenase kinase deficiencyAutosomal recessive
BCL106035171616098?Immunodeficiency, type 37Autosomal recessive
BCS1L6036472256000BCS1L-related disorders, including Leigh syndromeAutosomal recessive
BEST160785411611809Bestrophinopathy, ARAutosomal recessive
BFSP160330720611391*Cataract 33, multiple typesAutosomal recessive*
BHLHA961541617609432Syndactyly, mesoaxial synostotic, with phalangeal reductionAutosomal recessive
BIN16012482255200Centronuclear myopathy, type 2Autosomal recessive
BLM60461015210900Bloom syndromeAutosomal recessive
BLNK60451510613502?Agammaglobulinemia 4Autosomal recessive
BLOC1S360976219614077Hermansky-Pudlak syndrome, type 8Autosomal recessive
BLOC1S660431015PLDN614171?Hermansky-Pudlak syndrome, type 9Autosomal recessive
BLVRA1097507614156*HyperbiliverdinemiaAutosomal recessive*
BMP11122648614856Osteogenesis imperfecta, type 13Autosomal recessive
BMPER6086997608022DiaphanospondylodysostosisAutosomal recessive
BMPR1B6032484609441Acromesomelic dysplasia, Demirhan typeAutosomal recessive
BOLA36131832614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaAutosomal recessive
BPGM6138967222800Erythrocytosis due to bisphosphoglycerate mutase deficiencyAutosomal recessive
BPNT26140108IMPAD1614078Chondrodysplasia with joint dislocations, GPAPP typeAutosomal recessive
BRAT16145067614498; 618056Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizuresAutosomal recessive
BRF160490214616202Cerebellofaciodental syndromeAutosomal recessive
BRIP160588217609054Fanconi anemia, complementation group JAutosomal recessive
BRWD3300553X300659Mental retardation, X-linked, type 93X-linked
BSCL260615811269700; 615924Congenital generalized lipodystrophy, type 2; Encephalopathy, progressive, with or without lipodystrophyAutosomal recessive
BSND6064121602522Bartter syndrome, type 4AAutosomal recessive
BTD6090193253260Biotinidase deficiencyAutosomal recessive
BTK300300X300755Agammaglobulinemia X-linked, type 1X-linked
BUB1B60286015257300Mosaic variegated aneuploidy syndrome 1Autosomal recessive
C12orf5761514012218340Temtamy syndromeAutosomal recessive
C12orf6561354112613559Combined oxidative phosphorylation deficiency 7; Spastic paraplegia, type 55, autosomal recessiveAutosomal recessive
C19orf1261429719614298*Neurodegeneration with brain iron accumulation, type 4Autosomal recessive*
C1QA1205501613652C1q deficiencyAutosomal recessive
C1QB1205701613652C1q deficiencyAutosomal recessive
C1QBP60126917617713Combined oxidative phosphorylation deficiency 33Autosomal recessive
C1QC1205751613652C1q deficiencyAutosomal recessive
C1S12058012613783C1s deficiencyAutosomal recessive
C26139276217000C2 deficiencyAutosomal recessive
C2CD361594411615948Orofaciodigital syndrome, type 14Autosomal recessive
C312070019613779Complement component 3 deficiencyAutosomal recessive
C51209009609536Complement component 5 deficiencyAutosomal recessive
C62170505612446Complement component 6 deficiencyAutosomal recessive
C72170705610102Complement component 7 deficiencyAutosomal recessive
C8B1209601613789Complement component 8 deficiency, type 2Autosomal recessive
C8orf376144778617406; 614500Bardet-Biedl syndrome, type 21; Cone-rod dystrophy 16 and Retintis pigmentosa 64Autosomal recessive
CA1260326315143860Hyperchlorhidrosis, isolatedAutosomal recessive
CA26114928259730Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)Autosomal recessive
CA5A11476116615751Hyperammonemia due to carbonic anhydrase VA deficiencyAutosomal recessive
CA81148158613227Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3Autosomal recessive
CABP260731411614899Deafness, autosomal recessive, type 93Autosomal recessive
CABP460896511610427Congenital stationary night blindness, type 2BAutosomal recessive
CACNA1D1142063614896Sinoatrial node dysfunction and deafnessAutosomal recessive
CACNA2D460817112610478Retinal cone dystrophy 4Autosomal recessive
CAD1140102616457Epileptic encephalopathy, early infantile, 50Autosomal recessive
CALCRL1141902618773?Lymphatic malformation 8Autosomal recessive
CANT161316517251450; 617719Desbuquois dysplasia, type 1; Epiphyseal dysplasia, multiple, type 7 Autosomal recessive
CAPN111422011616907Spastic paraplegia, type 76, autosomal recessiveAutosomal recessive
CAPN311424015253600Limb-girdle muscular dystrophy, type 1 (LGMD R1)Autosomal recessive
CARD116072107615206Immunodeficiency, type 11AAutosomal recessive
CARD96072129212050Candidiasis, familial, type 2, autosomal recessiveAutosomal recessive
CARS261280013616672Combined oxidative phosphorylation deficiency 27Autosomal recessive
CASQ21142511611938Ventricular tachycardia, catecholaminergic polymorphic, type 2Autosomal recessive
CASR6011993239200*Hyperparathyroidism, neonatalAutosomal recessive*
CAST1140905616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsAutosomal recessive
CAT11550011614097AcatalasemiaAutosomal recessive
CATSPER160638911612997Spermatogenic failure, type 7Autosomal recessive
CAVIN160319817PTRF613327Lipodystrophy, congenital generalized, type 4Autosomal recessive
CBLIF60934211GIF261000Intrinsic factor deficiencyAutosomal recessive
CBS61338121236200Homocystinuria due to cystathionine beta-synthaseAutosomal recessive
CC2D1A61005519608443Mental retardation, autosomal recessive, type 3Autosomal recessive
CC2D2A6120134612285; 612284Joubert syndrome, type 9; Meckel syndrome, type 6Autosomal recessive
CCBE161275318235510Hennekam lymphangiectasia-lymphedema syndrome, type 1Autosomal recessive
CCDC10361467717614679Ciliary dyskinesia, primary, type 17Autosomal recessive
CCDC1156137342616828Congenital disorder of glycosylation, type IIoAutosomal recessive
CCDC1746167353616816Hypotonia, infantile, with psychomotor retardationAutosomal recessive
CCDC396137983613807Ciliary dyskinesia, primary, type 14Autosomal recessive
CCDC4061379917613808Ciliary dyskinesia, primary, type 15Autosomal recessive
CCDC6561108812615504Ciliary dyskinesia, primary, type 27Autosomal recessive
CCDC8614145196142053M syndrome 3Autosomal recessive
CCDC88C61120414236600Hydrocephalus, congenital, type 1 Autosomal recessive
CCN66034006WISP3208230Arthropathy, progressive pseudorheumatoid, of childhoodAutosomal recessive
CCNO6077525615872Ciliary dyskinesia, primary, type 29Autosomal recessive
CD1910726516613493Immunodeficiency, common variable, type 3Autosomal recessive
CD2471867801610163?Immunodeficiency, type 25Autosomal recessive
CD2718671112615122Lymphoproliferative syndrome 2Autosomal recessive
CD2AP6042416607832*Glomerulosclerosis, focal segmental, type 3, susceptibility toAutosomal recessive*
CD32060647519613646Methylmalonic aciduria, transient, due to transcobalamin receptor defectAutosomal recessive
CD361735107608404Platelet glycoprotein 4 deficiencyAutosomal recessive
CD3D18679011615617Immunodeficiency, type 19Autosomal recessive
CD3E18683011615615Immunodeficiency, type 18Autosomal recessive
CD3G18674011615607Immunodeficiency, type 17, CD3 gamma deficientAutosomal recessive
CD4010953520606843Immunodeficiency with hyper-IgM, type 3Autosomal recessive
CD40LG300386X308230Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
CD551252401226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE)Autosomal recessive
CD5910727111612300CD59 deficiencyAutosomal recessive
CD79A11220519613501Agammaglobulinemia 3Autosomal recessive
CD79B14724517612692Agammaglobulinemia 6Autosomal recessive
CD8118684511613496Immunodeficiency, common variable, type 6Autosomal recessive
CD8A1869102608957CD8 deficiency, familialAutosomal recessive
CDAN160746515224120Dyserythropoietic anemia, congenital, type 1AAutosomal recessive
CDC14A6035041616958Deafness, autosomal recessive, type 105Autosomal recessive
CDC4560346522617063Meier-Gorlin syndrome 7Autosomal recessive
CDCA76099372616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3Autosomal recessive
CDH1160002316211380Elsahy-Waters syndromeAutosomal recessive
CDH2360551610601386; 601067Deafness, autosomal recessive, type 12; Usher syndrome, type 1DAutosomal recessive
CDH311402116225280Ectodermal dysplasia, ectrodactyly, and macular dystrophyAutosomal recessive
CDHR160950210613660Cone-rod dystrophy, type 15Autosomal recessive
CDIN161562615C15orf41615631Dyserythropoietic anemia, congenital, type IbAutosomal recessive
CDK1060346416617694Al Kaissi syndromeAutosomal recessive
CDK5RAP26082019604804Primary microcephaly type 3, autosomal recessiveAutosomal recessive
CDSN6025936270300Peeling skin syndrome 1Autosomal recessive
CDT160552516613804Meier-Gorlin syndrome, type 4Autosomal recessive
CEBPE60074914245480Specific granule deficiencyAutosomal recessive
CENPF6002361243605Stromme syndromeAutosomal recessive
CENPJ60927913608393Primary microcephaly type 6, autosomal recessiveAutosomal recessive
CEP1046166901616781Joubert syndrome 25Autosomal recessive
CEP1206134465616300Short-rib thoracic dysplasia 13 with or without polydactylyAutosomal recessive
CEP1356114234614673Microcephaly 8, primary, autosomal recessiveAutosomal recessive
CEP15261352915614852Primary microcephaly type 9, autosomal recessiveAutosomal recessive
CEP16461484811614845Nephronophthisis 15Autosomal recessive
CEP196155863615703Morbid obesity and spermatogenic failureAutosomal recessive
CEP29061014212611134; 610188; 611755Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10Autosomal recessive
CEP416105237614464Joubert syndrome, type 15Autosomal recessive
CEP5561000010236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyAutosomal recessive
CEP5760795111614114Mosaic variegated aneuploidy syndrome 2Autosomal recessive
CEP786171109617236Cone-rod dystrophy and hearing lossAutosomal recessive
CEP8361584712CCDC41615862Nephronophthisis 18Autosomal recessive
CERKL6083812608380Retinitis pigmentosa, type 26Autosomal recessive
CERS361527615615023Ichthyosis, congenital, autosomal recessive 9Autosomal recessive
CFAP4361755810WDR96617592Spermatogenic failure, type 19Autosomal recessive
CFAP5361475918CCDC11614779Heterotaxy, visceral, 6, autosomal recessiveAutosomal recessive
CFD13435019613912Complement factor D deficiencyAutosomal recessive
CFH1343701609814Complement factor H deficiencyAutosomal recessive
CFI2170304610984Complement factor I deficiencyAutosomal recessive
CFL260144314610687Nemaline myopathy, type 7, autosomal recessiveAutosomal recessive
CFTR6024217219700Cystic fibrosisAutosomal recessive
CHAT11849010254210Myasthenic syndrome, congenital, type 6, presynapticAutosomal recessive
CHKB61239522602541Muscular dystrophy, congenital, megaconial typeAutosomal recessive
CHM300390X303100ChoroideremiaX-linked
CHMP1A16401016614961Pontocerebellar hypoplasia, type 8Autosomal recessive
CHRNA11006902253290Multiple pterygium syndrome, lethal typeAutosomal recessive
CHRNB110071017616314?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiencyAutosomal recessive
CHRND1007202616322; 253290Myasthenic syndrome, congenital, type 3B, fast-channel; Multiple pterygium syndrome, lethal typeAutosomal recessive
CHRNE10072517616324; 608931Myasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiencyAutosomal recessive
CHRNG1007302265000; 253290Multiple pterygium syndrome (MPS), Escobar type; MPS, lethal typeAutosomal recessive
CHST1460842915601776Ehlers-Danlos syndrome, musculocontractural, type 1Autosomal recessive
CHST360379910143095Spondyloepiphyseal dysplasia with congenital joint dislocationsAutosomal recessive
CHST660529416217800Macular corneal dystrophyAutosomal recessive
CHSY160818315605282Temtamy preaxial brachydactyly syndromeAutosomal recessive
CHUK60066410613630Cocoon syndromeAutosomal recessive
CIB260556415609439;614869Deafness, autosomal recessive, type 48; Usher syndrome, type 1JAutosomal recessive
CIITA60000516209920Bare lymphocyte syndrome, type 2, complementation group AAutosomal recessive
CILK16123256ICK612651Endocrine-cerebroosteodysplasiaAutosomal recessive
CISD26115074604928Wolfram syndrome 2Autosomal recessive
CIT60562912617090Microcephaly 17, primary, autosomal recessiveAutosomal recessive
CKAP2L6161742272440Filippi syndromeAutosomal recessive
CLCF160767211610313Cold-induced sweating syndrome 2Autosomal recessive
CLCN11184257255700Myotonia congenita, recessiveAutosomal recessive
CLCN26005703615651Leukoencephalopathy with ataxiaAutosomal recessive
CLCN760272716611490Osteopetrosis, autosomal recessive type 4Autosomal recessive
CLCNKA6020241613090Bartter syndrome, type 4B, digenicDigenic inheritance (CLCNKB gene)
CLCNKB6020231607364; 613090Bartter syndrome, type 3; Bartter syndrome, type 4B, digenicAutosomal recessive; Digenic inheritance (CLCNKA gene)
CLDN16037183607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisAutosomal recessive
CLDN1061757913617671HELIX syndromeAutosomal recessive
CLDN1460560821614035Deafness type 29, autosomal recessiveAutosomal recessive
CLDN166039593248250Hypomagnesemia, type 3, renalAutosomal recessive
CLDN196100361248190Rena hypomagnesemia type 5, with ocular involvementAutosomal recessive
CLMP61169311615237Congenital short bowel syndromeAutosomal recessive
CLN360704216204200Ceroid lipofuscinosis, neuronal, type 3Autosomal recessive
CLN560810213256731Ceroid lipofuscinosis, neuronal, type 5Autosomal recessive
CLN660672515601780Ceroid lipofuscinosis, neuronal, type 6 Autosomal recessive
CLN86078378600143Ceroid lipofuscinosis, neuronal, type 8Autosomal recessive
CLP160875711615803Pontocerebellar hypoplasia, type 10Autosomal recessive
CLPB616254116162713-methylglutaconic aciduria, type 7, with cataracts, neurologic involvement and neutropeniaautosomal recessive
CLPP60111919614129Perrault syndrome 3Autosomal recessive
CLRN16063973276902Usher syndrome, type 3AAutosomal recessive
CNGA11238254613756Retinitis pigmentosa type 49Autosomal recessive
CNGA36000532216900Achromatopsia, type 2Autosomal recessive
CNGB160072416613767Retinitis pigmentosa type 45Autosomal recessive
CNGB36050808262300Achromatopsia, type 3Autosomal recessive
CNNM260780310616418*Hypomagnesemia, seizures, and mental retardationAutosomal recessive*
CNNM46078052217080Jalili syndromeAutosomal recessive
CNPY36107746617929Epileptic encephalopathy, early infantile, type 60Autosomal recessive
CNTNAP160234617616286Lethal congenital contracture syndrome 7Autosomal recessive
CNTNAP26045697610042Pitt-Hopkins like syndrome 1Autosomal recessive
COA66147721616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4Autosomal recessive
COA861600314APOPT1619061Mitochondrial complex IV deficiency, nuclear type 17Autosomal recessive
COASY60985517615643Neurodegeneration with brain iron accumulation 6Autosomal recessive
COG160697317611209Congenital disorder of glycosylation, type IIgAutosomal recessive
COG460697616613489Congenital disorder of glycosylation, type 2JAutosomal recessive
COG56068217613612Congenital disorder of glycosylation, type 2IAutosomal recessive
COG660697713614576; 615328Congenital disorder of glycosylation, type 2L; Shaheen syndromeAutosomal recessive
COG760697816608779Congenital disorder of glycosylation, type 2EAutosomal recessive
COG860697916611182Congenital disorder of glycosylation, type 2HAutosomal recessive
COL11A11202801228520Fibrochondrogenesis type 1Autosomal recessive
COL11A21202906215150Otospondylomegaepiphyseal dysplasia, autosomal recessiveAutosomal recessive
COL13A112035010616720Myasthenic syndrome, congenital, 19Autosomal recessive
COL17A111381110226650Epidermolysis bullosa, junctional, non-Herlitz typeAutosomal recessive
COL18A112032821267750Knobloch syndrome, type 1Autosomal recessive
COL1A21201607225320Ehlers-Danlos syndrome, cardiac valvular typeAutosomal recessive
COL25A16100044616219Fibrosis of extraocular muscles, congenital, type 5Autosomal recessive
COL27A16084619615155Steel syndromeAutosomal recessive
COL4A31200702203780Alport syndrome, autosomal recessive, type 2Autosomal recessive
COL4A41201312203780Alport syndrome, autosomal recessive, type 2Autosomal recessive
COL4A5303630X301050Alport syndrome, X-linkedX-linked
COL6A112022021254090*Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])Autosomal recessive*
COL6A212024021254090*Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])Autosomal recessive*
COL6A31202502254090*Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])Autosomal recessive*
COL7A11201203226600; 604129*; 131850*Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibialAutosomal recessive; Autosomal recessive*; Autosomal recessive*
COL9A11202106614134Stickler syndrome, type 4Autosomal recessive
COL9A21202601614284?Stickler syndrome, type VAutosomal recessive
COLEC1060762082483403MC syndrome 3Autosomal recessive
COLEC1161250222650503MC syndrome 2Autosomal recessive
COLQ6030333603034Myasthenic syndrome, congenital, type 5Autosomal recessive
COQ26098254607426Primary coenzyme Q10 deficiency, type 1Autosomal recessive
COQ46128989616276Coenzyme Q10 deficiency, primary, type 7Autosomal recessive
COQ661464714614650Coenzyme Q10 deficiency, primary, type 6Autosomal recessive
COQ8A6069801ADCK3612016Primary coenzyme Q10 deficiency, type 4Autosomal recessive
COQ8B61556719ADCK4615573Nephrotic syndrome, type 9Autosomal recessive
COQ961283716614654Coenzyme Q10 deficiency, primary, type 5Autosomal recessive
CORO1A60500016615401Immunodeficiency, type 8Autosomal recessive
COX1060212517619046Mitochondrial complex IV deficiency, nuclear type 3Autosomal recessive
COX1560364610615119; 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiencyAutosomal recessive
COX206146981619054Mitochondrial complex IV deficiency, nuclear type 11Autosomal recessive
COX6B112408919619051Mitochondrial complex IV deficiency, nuclear type 7Autosomal recessive
CP1177003604290AceruloplasminemiaAutosomal recessive
CPA66095628614418Febrile seizures, familial, type 11Autosomal recessive
CPAMD860884119617319Anterior segment dysgenesis, type 8Autosomal recessive
CPLANE16145715C5orf42614615Joubert syndrome 17Autosomal recessive
CPLX16050324617976Epileptic encephalopathy, early infantile, 63Autosomal recessive
CPS16083072237300Carbamoylphosphate synthetase 1 deficiencyAutosomal recessive
CPT1A60052811255120Carnitine palmitoyltransferase type 1A deficiency, hepaticAutosomal recessive
CPT26006501608836; 600649Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantileAutosomal recessive
CR21206501614699Immunodeficiency, common variable, type 7Autosomal recessive
CRADD60345412614499Mental retardation, autosomal recessive, type 34, with variant lissencephalyAutosomal recessive
CRB16042101600105; 613835Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8Autosomal recessive
CRB26097209219730Ventriculomegaly with cystic kidney diseaseAutosomal recessive
CRBN6092623607417Mental retardation, autosomal recessive, type 2Autosomal recessive
CRIPT6045942615789Short stature with microcephaly and distinctive faciesAutosomal recessive
CRLF160423719272430Cold-induced sweating syndrome type 1Autosomal recessive
CRPPA6146317ISPD614643; 616052Muscular dystrophy-dystroglycanopathy, type A7; Muscular dystrophy-dystroglycanopathy, type C7Autosomal recessive
CRTAP6054973610682Osteogenesis imperfecta, type 7Autosomal recessive
CRYAA12358021604219*Cataract 9, multiple typesAutosomal recessive*
CRYAB12359011613869; 613763*Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Cataract 16, multiple typesAutosomal recessive; Autosomal recessive*
CRYBB160092922611544*Cataract 17Autosomal recessive*
CRYBB312363022609741Cataract 22Autosomal recessive
CSF2RB13898122614370Surfactant metabolism dysfunction, pulmonary, type 5Autosomal recessive
CSF3R1389711617014Neutropenia, severe congenital, type 7, autosomal recessiveAutosomal recessive
CSPP16116548615636Joubert syndrome 21Autosomal recessive
CSTA1846003607936Peeling skin syndrome, type 4Autosomal recessive
CSTB60114521254800Epilepsy, progressive myoclonic type 1A (Unverricht and Lundborg)Autosomal recessive
CTC161312917612199Cerebroretinal microangiopathy with calcifications and cystsAutosomal recessive
CTH6076571219500CystathioninuriaAutosomal recessive
CTNS60627217219800Nephropathic cystinosisAutosomal recessive
CTPS11238601615897Immunodeficiency, type 24Autosomal recessive
CTSA61311120256540GalactosialidosisAutosomal recessive
CTSC60236511245010; 245000Haim-Munk syndrome; Papillon-Lefevre syndromeAutosomal recessive
CTSD11684011610127Ceroid lipofuscinosis, neuronal, type 10Autosomal recessive
CTSF60353911615362Ceroid lipofuscinosis, neuronal, type 13 (Kufs type)Autosomal recessive
CTSK6011051265800PycnodysostosisAutosomal recessive
CUBN60299710261100Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome)Autosomal recessive
CUL4B300304X300354Mental retardation, X-linked, syndromic, type 15 (Cabezas type)X-linked
CUL760957762737503M syndrome 1Autosomal recessive
CWC276171705250410Retinitis pigmentosa with or without skeletal anomaliesAutosomal recessive
CWF19L161612010616127Spinocerebellar ataxia, autosomal recessive, type 17Autosomal recessive
CYB5A6132181825079046,XY disorder of sex development due to isolated 17,20-lyase deficiencyAutosomal recessive
CYB5R361321322250800Methemoglobinemia, type 1; Methemoglobinemia, type 2Autosomal recessive
CYBA60850816233690Chronic granulomatous disease, type 4Autosomal recessive
CYBB300481X306400Chronic granulomatous disease, X-linkedX-linked
CYC11239808615453Mitochondrial complex III deficiency, nuclear type 6Autosomal recessive
CYP11A11184851561374346,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyAutosomal recessive
CYP11B16106138202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiencyAutosomal recessive
CYP11B21240808203400Hypoaldosteronism, congenital, due to CMO I deficiencyAutosomal recessive
CYP17A16093001020211017 alpha(?)-hydroxylase/17,20-lyase deficiency Autosomal recessive
CYP19A110791015613546Aromatase deficiencyAutosomal recessive
CYP1B16017712231300Glaucoma, primary congenital, type 3AAutosomal recessive
CYP21A26138156201910Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAutosomal recessive
CYP24A112606520143880Hypercalcemia, infantile, type 1Autosomal recessive
CYP26B16052072614416Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomaliesAutosomal recessive
CYP26C160842810614974Focal facial dermal dysplasia 4Autosomal recessive
CYP27A16065302213700Cerebrotendinous xanthomatosisAutosomal recessive
CYP27B160950612264700Vitamin D-dependent rickets, type 1Autosomal recessive
CYP2R160871311600081Rickets due to defect in vitamin D 25-hydroxylationAutosomal recessive
CYP2U16106704615030Spastic paraplegia, type 56, autosomal recessiveAutosomal recessive
CYP4F2261149519604777Ichthyosis, congenital, autosomal recessive, type 5Autosomal recessive
CYP4V26086144210370Bietti crystalline corneoretinal dystrophyAutosomal recessive
CYP7B16037118270800Spastic paraplegia, type 5A, autosomal recessiveAutosomal recessive
D2HGDH6091862600721D-2-hydroxyglutaric aciduriaAutosomal recessive
DAG11282393616538; 613818Muscular dystrophy-dystroglycanopathy type A9; Muscular dystrophy-dystroglycanopathy type C9Autosomal recessive
DARS16030842DARS615281Hypomyelination with brainstem and spinal cord involvement and leg spasticityAutosomal recessive
DARS26109561611105Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationAutosomal recessive
DBH6093129223360Dopamine beta-hydroxylase deficiencyAutosomal recessive
DBT2486101248600Maple syrup urine disease, type 2Autosomal recessive
DCAF176125152241080Woodhouse-Sakati syndromeAutosomal recessive
DCC12047018617542Gaze palsy, familial horizontal, with progressive scoliosis, type 2 Autosomal recessive
DCDC26057556617394; 616217Sclerosing cholangitis, neonatal; Nephronophthisis 19Autosomal recessive
DCHS160305711601390Van Maldergem syndrome 1Autosomal recessive
DCLRE1C60598810603554; 602450Omenn syndrome; Severe combined immunodeficiency, Athabascan typeAutosomal recessive
DCPS61053411616459Al-Raqad syndromeAutosomal recessive
DCX300121X300067Lissencephaly, X-linked, type 1X-linked
DDB260081111278740Xeroderma pigmentosum, complementation group EAutosomal recessive
DDC1079307608643Aromatic L-amino acid decarboxylase deficiencyAutosomal recessive
DDHD161460314609340Spastic paraplegia, type 28, autosomal recessiveAutosomal recessive
DDHD26150038615033Spastic paraplegia, type 54, autosomal recessiveAutosomal recessive
DDR21913111271665Spondylometaepiphyseal dysplasia, short limb-hand typeAutosomal recessive
DDRGK161617720602557Spondyloepimetaphyseal dysplasia, Shohat typeAutosomal recessive
DDX1160115012613398Warsaw breakage syndromeAutosomal recessive
DDX596154641174300Orofaciodigital syndrome VAutosomal recessive
DENND5A61727811617281Epileptic encephalopathy, early infantile, 49Autosomal recessive
DES1256602601419*Myopathy, myofibrillar, type 1Autosomal recessive*
DGAT16049008615863?Diarrhea 7, protein-losing enteropathy typeAutosomal recessive
DGKE60144017615008Nephrotic syndrome, type 7Autosomal recessive
DGUOK6014652251880DGUOK-related mitochondrial DNA depletion syndromeAutosomal recessive
DHCR246064181602398DesmosterolosisAutosomal recessive
DHCR760285811270400Smith-Lemli-Opitz syndromeAutosomal recessive
DHDDS6081721613861Retinitis pigmentosa, type 59Autosomal recessive
DHFR1260605613839Megaloblastic anemia due to dihydrofolate reductase deficiencyAutosomal recessive
DHH6054231223342046,XY complete gonadal dysgenesisAutosomal recessive
DHODH12606416263750Miller syndromeAutosomal recessive
DHPS60094419618480Neurodevelopmental disorder with seizures and speech and walking impairmentAutosomal recessive
DHTKD1614984102047502-aminoadipic 2-oxoadipic aciduriaAutosomal recessive
DIAPH16021215616632Seizures, cortical blindness, microcephaly syndromeAutosomal recessive
DIS3L26141842267000Perlman syndromeAutosomal recessive
DKC1300126X305000Dyskeratosis congenita, X-linkedX-linked
DLAT60877011245348Pyruvate dehydrogenase E2 deficiencyAutosomal recessive
DLD2383317246900Dihydrolipoamide dehydrogenase deficiencyAutosomal recessive
DLG3300189X300850Mental retardation, X-linked, type 90X-linked
DLL360276819277300Spondylocostal dysostosis type 1Autosomal recessive
DMD300377X310200; 300376Duchenne/Becker muscular dystrophyX-linked
DMGDH6058495605850Dimethylglycine dehydrogenase deficiencyAutosomal recessive
DMP16009804241520Hypophosphatemic rickets, autosomal recessiveAutosomal recessive
DMXL261218615618663Developmental and epileptic encephalopathy, type 81Autosomal recessive
DNAAF161319016613193Ciliary dyskinesia, primary, type 13Autosomal recessive
DNAAF261251714612518Ciliary dyskinesia, primary, type 10Autosomal recessive
DNAAF361456619606763Ciliary dyskinesia, primary, type 2Autosomal recessive
DNAAF460870615DYX1C1615482Ciliary dyskinesia, primary, type 25Autosomal recessive
DNAAF56148647HEATR2614874Ciliary dyskinesia, primary, type 18Autosomal recessive
DNAH16033323617576Spermatogenic failure, type 18Autosomal recessive
DNAH116033397611884Ciliary dyskinesia, primary, type 7, with or without situs inversusAutosomal recessive
DNAH56033355608644Ciliary dyskinesia, primary, type 3, with or without situs inversusAutosomal recessive
DNAH960333017618300Ciliary dyskinesia, primary, type 40Autosomal recessive
DNAI16043669244400Ciliary dyskinesia, primary, type 1, with or without situs inversusAutosomal recessive
DNAI260548317612444Ciliary dyskinesia, primary, type 9, with or without situs inversusAutosomal recessive
DNAJB1361026311617091Ciliary dyskinesia, primary, type 34Autosomal recessive
DNAJB26041392614881Spinal muscular atrophy, distal, autosomal recessive, type 5Autosomal recessive
DNAJC1260606010617384Hyperphenylalaninemia, mild, non-BH4-deficientAutosomal recessive
DNAJC1960897736101983-methylglutaconic aciduria, type 5Autosomal recessive
DNAJC216170485617052Bone marrow failure syndrome, type 3Autosomal recessive
DNAJC66083751615528Parkinson disease, type 19A, juvenile-onset; Parkinson disease, type 19B, early-onsetAutosomal recessive
DNAL161006214614017Ciliary dyskinesia, primary, type 16Autosomal recessive
DNASE1L36022443614420Systemic lupus erythematosus 16Autosomal recessive
DNM1L60385012614388*Encephalopathy due to defective mitochondrial and peroxisomal fission, type 1Autosomal recessive*
DNM260237819615368Lethal congenital contracture syndrome, type 5Autosomal recessive
DNMT3B60290020242860Immunodeficiency-centromeric instability-facial anomalies syndrome, type 1Autosomal recessive
DOCK26031225616433Immunodeficiency, type 40Autosomal recessive
DOCK661419419614219Adams-Oliver syndrome 2Autosomal recessive
DOCK76157301615859Epileptic encephalopathy, early infantile, 23Autosomal recessive
DOCK86114329243700Hyper-IgE recurrent infection syndrome, autosomal recessiveAutosomal recessive
DOK76102854618389; 254300Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10Autosomal recessive
DOLK6107469610768Congenital disorder of glycosylation, type 1MAutosomal recessive
DONSON61142821617604Microcephaly, short stature, and limb abnormalitiesAutosomal recessive
DPAGT119135011608093; 614750Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13Autosomal recessive
DPH160352717616901Developmental delay with short stature, dysmorphic features, and sparse hairAutosomal recessive
DPM160350320608799Congenital disorder of glycosylation, type 1EAutosomal recessive
DPM26035649615042Congenital disorder of glycosylation, type IuAutosomal recessive
DPM36059511612937Congenital disorder of glycosylation, type IoAutosomal recessive
DPY19L261389312613958Spermatogenic failure, type 9Autosomal recessive
DPYD6127791274270Dihydropyrimidine dehydrogenase deficiencyAutosomal recessive
DPYS6133268222748DihydropyrimidinuriaAutosomal recessive
DRAM26133601616502Cone-rod dystrophy 21Autosomal recessive
DRC16152882615294Ciliary dyskinesia, primary, type 21Autosomal recessive
DSG112567018615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgEAutosomal recessive
DSG460789218607903Hypotrichosis, type 6Autosomal recessive
DSP1256476605676; 609638Cardiomyopathy, dilated, with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholyticAutosomal recessive
DST1138106615425Epidermolysis bullosa simplex, autosomal recessive, type 2Autosomal recessive
DSTYK6126661270750Spastic paraplegia, type 23, autosomal recessiveAutosomal recessive
DTNBP16071456614076Hermansky-Pudlak syndrome, type 7Autosomal recessive
DUOX260675915607200Thyroid dyshormonogenesis, type 6Autosomal recessive
DUOXA261277215274900Thyroid dyshormonogenesis, type 5Autosomal recessive
DYM60746118607326; 223800Smith-McCort dysplasia; Dyggve-Melchior-Clausen diseaseAutosomal recessive
DYNC2H160329711613091Short-rib thoracic dysplasia, type 3, with or without polydactylyAutosomal recessive
DYNC2I16154627WDR60615503Short-rib thoracic dysplasia 8 with or without polydactylyAutosomal recessive
DYNC2I26133639WDR34615633Short-rib thoracic dysplasia 11 with or without polydactylyAutosomal recessive
DYNC2LI16170832617088Short-rib thoracic dysplasia 15 with polydactylyAutosomal recessive
DYNLT2B6173533TCTEX1D2617405Short-rib thoracic dysplasia 17 with or without polydactylyAutosomal recessive
DYSF6030092254130; 253601Miyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)Autosomal recessive
DZIP1L6175703617610Polycystic kidney disease 5Autosomal recessive
EARS261279916614924Combined oxidative phosphorylation deficiency 12Autosomal recessive
ECEL16058962615065Arthrogryposis, distal, type 5DAutosomal recessive
ECHS160229210616277Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyAutosomal recessive
ECM16022011247100Urbach-Wiethe diseaseAutosomal recessive
EDA300451X305100Ectodermal dysplasia, type 1, hypohidrotic, X-linkedX-linked
EDAR6040952224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth typeAutosomal recessive
EDARADD6066031614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth typeAutosomal recessive
EDN11312406615706Auriculocondylar syndrome, type 3Autosomal recessive
EDN313124220613265Waardenburg syndrome, type 4BAutosomal recessive
EDNRB13124413600501ABCD syndromeAutosomal recessive
EFEMP260463311614437Cutis laxa, autosomal recessive, type 1BAutosomal recessive
EFL161753815EFTUD1617941Shwachman-Diamond syndrome 2Autosomal recessive
EGFR1315507616069?Inflammatory skin and bowel disease, neonatal, 2 Autosomal recessive
EGR212901010145900*Dejerine-Sottas diseaseAutosomal recessive*
EIF2AK36040322226980Wolcott-Rallison syndromeAutosomal recessive
EIF2AK460928015234810Pulmonary venoocclusive disease 2Autosomal recessive
EIF2B160668612603896Leukoencephalopathy with vanishing white matterAutosomal recessive
EIF2B260645414603896Leukoencephalopathy with vanishing white matterAutosomal recessive
EIF2B36062731603896Leukoencephalopathy with vanishing white matterAutosomal recessive
EIF2B46066872603896Leukoencephalopathy with vanishing white matterAutosomal recessive
EIF2B56039453603896Leukoencephalopathy with vanishing white matterAutosomal recessive
EIF4A360854617268305Robin sequence with cleft mandible and limb anomaliesAutosomal recessive
ELAC260536717615440Combined oxidative phosphorylation deficiency 17Autosomal recessive
ELMO260642120606893Vascular malformation, primary intraosseousAutosomal recessive
ELOVL46055126614457Ichthyosis, spastic quadriplegia, and mental retardationAutosomal recessive
ELP16037229IKBKAP223900Familial dysautonomiaAutosomal recessive
ELP261605418617270Mental retardation, autosomal recessive, type 58Autosomal recessive
EMC16168461616875Cerebellar atrophy, visual impairment, and psychomotor retardationAutosomal recessive
EMD300384X310300Emery-Dreifuss muscular dystrophy, type 1, X-linkedX-linked
EML160203314600348Band heterotopiaAutosomal recessive
EMP260233416615861Nephrotic syndrome, type 10Autosomal recessive
ENAM6065854204650Amelogenesis imperfecta, type 1CAutosomal recessive
ENO313137017612932?Glycogen storage disease XIIIAutosomal recessive
ENPP11733356208000Arterial calcification, generalized, of infancy, type 1Autosomal recessive
ENTPD160175210615683Spastic paraplegia, type 64, autosomal recessiveAutosomal recessive
EOGT6147893615297Adams-Oliver syndrome 4Autosomal recessive
EPB411305001611804*Elliptocytosis, type 1Autosomal recessive*
EPB4217707015612690Spherocytosis, type 5Autosomal recessive
EPCAM1855352613217Diarrhea 5, with tufting enteropathy, congenitalAutosomal recessive
EPG561506818242840Vici syndromeAutosomal recessive
EPM2A6075666254780Epilepsy, progressive myoclonic, type 2A (Lafora)Autosomal recessive
EPRS11382951EPRS617951Leukodystrophy, hypomyelinating, type 15Autosomal recessive
EPS8L261498811617637Deafness autosomal recessive, type 106Autosomal recessive
ERAL160743517617565Perrault syndrome 6Autosomal recessive
ERBB319015112607598Lethal congenital contractural syndrome, type 2Autosomal recessive
ERCC112638019610758Cerebrooculofacioskeletal syndrome, type 4Autosomal recessive
ERCC212634019601675Trichothiodystrophy, type 1Autosomal recessive
ERCC31335102616390Trichothiodystrophy, type 2Autosomal recessive
ERCC413352016615272Fanconi anemia, complementation group QAutosomal recessive
ERCC513353013616570Cerebrooculofacioskeletal syndrome, type 3Autosomal recessive
ERCC660941310133540; 214150Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1Autosomal recessive
ERCC6L26156679615715Bone marrow failure syndrome, type 2Autosomal recessive
ERCC86094125216400Cockayne syndrome, type AAutosomal recessive
ERLIN161160410615681Spastic paraplegia, type 62, autosomal recessiveAutosomal recessive
ERLIN26116058611225Spastic paraplegia, type 18, autosomal recessiveAutosomal recessive
ESCO26093538268300Roberts syndromeAutosomal recessive
ESPN6063511609006Deafness, autosomal recessive, type 36Autosomal recessive
ESR11334306615363Estrogen resistanceAutosomal recessive
ESRRB60216714608565Deafness, autosomal recessive, type 35Autosomal recessive
ETFA60805315231680Glutaric acidemia, type 2AAutosomal recessive
ETFB13041019231680Glutaric acidemia, type 2BAutosomal recessive
ETFDH2316754231680Glutaric acidemia, type 2CAutosomal recessive
ETHE160845119602473Ethylmalonic encephalopathyAutosomal recessive
EVC6048314225500Ellis-van Creveld syndromeAutosomal recessive
EVC26072614225500Ellis-van Creveld syndromeAutosomal recessive
EXOSC36064899614678Pontocerebellar hypoplasia, type 1BAutosomal recessive
EXPH561287811615028Epidermolysis bullosa, nonspecific, autosomal recessiveAutosomal recessive
EXT16081778215300ChondrosarcomaAutosomal recessive
EXTL36057448617425Immunoskeletal dysplasia with neurodevelopmental abnormalitiesAutosomal recessive
EYS6124246602772Retinitis pigmentosa, type 25Autosomal recessive
F1061387213227600Factor X deficiencyAutosomal recessive
F112649004612416*Factor XI deficiencyAutosomal recessive*
F13A11345706613225Factor XIIIA deficiencyAutosomal recessive
F13B1345801613235Factor XIIIB deficiencyAutosomal recessive
F217693011613679Prothrombin deficiencyAutosomal recessive
F56123091227400Factor V deficiencyAutosomal recessive
F761387813227500Factor VII deficiencyAutosomal recessive
F8300841X306700Hemophilia AX-linked
F9300746X306900Hemophilia BX-linked
FA2H61102616612319Spastic paraplegia, type 35, autosomal recessiveAutosomal recessive
FADD60245711613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAutosomal recessive
FAH61387115276700Tyrosinemia, type 1Autosomal recessive
FAM126A6105317610532Leukodystrophy, hypomyelinating, type 5Autosomal recessive
FAM161A6135962606068Retinitis pigmentosa, type 28Autosomal recessive
FAM20A61106217204690Amelogenesis imperfecta, type 1G (Enamel-renal syndrome)Autosomal recessive
FAM20C6110617259775Raine syndromeAutosomal recessive
FAN161353415614817Interstitial nephritis, karyomegalicAutosomal recessive
FANCA60713916227650Fanconi anemia, complementation group AAutosomal recessive
FANCC6138999227645Fanconi anemia, complementation group CAutosomal recessive
FANCD26139843227646Fanconi anemia, complementation group D2Autosomal recessive
FANCE6139766600901Fanconi anemia, complementation group EAutosomal recessive
FANCF61389711603467Fanconi anemia, complementation group FAutosomal recessive
FANCG6029569614082Fanconi anemia, complementation group GAutosomal recessive
FANCI61136015609053Fanconi anemia, complementation group IAutosomal recessive
FANCL6081112614083Fanconi anemia, complementation group LAutosomal recessive
FANCM60964414618086Spermatogenic failure, type 28Autosomal recessive
FAR161610711616154Peroxisomal fatty acyl-CoA reductase 1 disorderAutosomal recessive
FARS26115926614946; 617046Combined oxidative phosphorylation deficiency 14; Spastic paraplegia, type 77, autosomal recessive Autosomal recessive
FASTKD26123222618855Combined oxidative phosphorylation deficiency 44Autosomal recessive
FAT46124114616006Hennekam lymphangiectasia-lymphedema syndrome 2Autosomal recessive
FBLN560458014219100Cutis laxa, autosomal recessive, type 1AAutosomal recessive
FBP16115709229700Fructose-1,6-bisphosphatase deficiencyAutosomal recessive
FBXL46056546615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Autosomal recessive
FBXO760564822260300Parkinson disease, type 15, autosomal recessiveAutosomal recessive
FDXR10327017617717Auditory neuropathy and optic atrophyAutosomal recessive
FECH61238618177000Protoporphyria, erythropoietic, autosomal recessiveAutosomal recessive
FERMT160790020173650Kindler syndromeAutosomal recessive
FERMT360790111612840Leukocyte adhesion deficiency, type 3Autosomal recessive
FEZF16133017616030Hypogonadotropic hypogonadism type 22, with or without anosmiaAutosomal recessive
FGA1348204202400Afibrinogenemia, congenitalAutosomal recessive
FGB1348304202400Congenital afibrinogenemiaAutosomal recessive
FGD1300546X305400Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16X-linked
FGD461110412609311Charcot-Marie-Tooth disease, type 4HAutosomal recessive
FGF2360538012617993Tumoral calcinosis, hyperphosphatemic, familial, type 2Autosomal recessive
FGF316495011610706Deafness, congenital with inner ear agenesis, microtia, and microdontiaAutosomal recessive
FGG1348504202400Afibrinogenemia, congenital; Hypofibrinogenemia, congenitalAutosomal recessive
FH1368501606812Fumarase deficiencyAutosomal recessive
FIBP60829611617107Thauvin-Robinet-Faivre syndromeAutosomal recessive
FIG46093906611228; 216340Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndromeAutosomal recessive
FKBP1060706317259450Bruck syndrome 1Autosomal recessive
FKBP146145057614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2Autosomal recessive
FKRP60659619613153; 606612; 607155Muscular dystrophy-dystroglycanopathy, type 5A (Walker-Warburg syndrome); Type 5B; Type 5C (limb-girdle muscular dystrophy, type 9 [LGMDR9])Autosomal recessive
FKTN6074409253800; 613152; 611588Muscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])Autosomal recessive
FLAD16105951255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiencyAutosomal recessive
FLG1359401146700Ichthyosis vulgarisAutosomal recessive*
FLI119306711617443*Bleeding disorder, platelet-type, type 21Autosomal recessive*
FLNB6033813272460Spondylocarpotarsal synostosis syndromeAutosomal recessive
FLVCR16091441609033Posterior column ataxia-retinitis pigmentosa syndromeAutosomal recessive
FLVCR261086514225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndromeAutosomal recessive
FMN26063731616193Mental retardation, autosomal recessive, type 47Autosomal recessive
FMO31361321602079TrimethylaminuriaAutosomal recessive
FMR1309550X300624Fragile X syndromeX-linked
FOLR113643011613068Neurodegeneration due to cerebral folate transport deficiencyAutosomal recessive
FOXE16026179241850Bamforth-Lazarus syndromeAutosomal recessive
FOXE36010941610256Anterior segment dysgenesis, type 2, multiple subtypesAutosomal recessive
FOXN160083817601705T-cell immunodeficiency, congenital alopecia and nail dystrophyAutosomal recessive
FOXRED161362211618241Mitochondrial complex I deficiency, nuclear type 19 Autosomal recessive
FRAS16078304219000Fraser syndrome, type 1Autosomal recessive
FREM16089449248450Manitoba oculotrichoanal syndromeAutosomal recessive
FREM260894513617666Fraser syndrome, type 2Autosomal recessive
FRRS1L6045749616981Epileptic encephalopathy, early infantile, 37Autosomal recessive
FSHB13653011229070Hypogonadotropic hypogonadism, type 24, without anosmiaAutosomal recessive
FSHR1364352233300Ovarian dysgenesis 1Autosomal recessive
FTCD60680621229100Glutamate formiminotransferase deficiencyAutosomal recessive
FTL13479019615604*L-ferritin deficiencyAutosomal recessive*
FTO61096616612938Growth retardation, developmental delay, facial dysmorphismAutosomal recessive
FTSJ1300499X309549Mental retardation, X-linked 44X-linked
FUCA16122801230000FucosidosisAutosomal recessive
FUT860258914618005Congenital disorder of glycosylation with defective fucosylation, type 1Autosomal recessive
FYCO16071823610019Cataract 18Autosomal recessive
FZD66034098614157Nail disorder, nonsyndromic congenital, type 10 (claw-shaped nails)Autosomal recessive
G6PC61374217232200Glycogen storage disease, type 1AAutosomal recessive
G6PC361104517612541Dursun syndromeAutosomal recessive
G6PD305900X300908Hemolytic anemia, G6PD deficient (favism)X-linked
GAA60680017232300Glycogen storage disease, type 2Autosomal recessive
GALC60689014245200Krabbe diseaseAutosomal recessive
GALE6069531230350Galactose epimerase deficiencyAutosomal recessive
GALK160431317230200Galactokinase deficiency with cataractsAutosomal recessive
GALNS61222216253000Mucopolysaccharidosis, type 4AAutosomal recessive
GALNT36017562211900Tumoral calcinosis, hyperphosphatemic, familial, type 1Autosomal recessive
GALT6069999230400GalactosemiaAutosomal recessive
GAMT60124019612736Cerebral creatine deficiency syndrome, type 2Autosomal recessive
GAN60537916256850Giant axonal neuropathy, type 1Autosomal recessive
GAS860517816616726Ciliary dyskinesia, primary, type 33Autosomal recessive
GATM60236015612718Cerebral creatine deficiency syndrome, type 3Autosomal recessive
GBA6064631230800Gaucher disease Autosomal recessive
GBA26094719614409Spastic paraplegia, type 46, autosomal recessiveAutosomal recessive
GBE16078393232500Glycogen storage disease, type 4Autosomal recessive
GCDH60880119231670Glutaricaciduria, type 1Autosomal recessive
GCH160022514233910Hyperphenylalaninemia, BH4-deficient, type BAutosomal recessive
GCK1380797606176*Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
GCM26037166618883Hypoparathyroidism, familial isolated (FIH) 2Autosomal recessive
GCNT26004296116700Cataract 13, with adult i phenotypeAutosomal recessive
GCSH23833016605899?Glycine encephalopathyAutosomal recessive
GDAP16065988608340Charcot-Marie-Tooth disease, recessive intermediate, type AAutosomal recessive
GDF160288019208530Right atrial isomerism (Ivemark syndrome)Autosomal recessive
GDF560114620200700Chondrodysplasia, Grebe typeAutosomal recessive
GDF66011478615360Leber congenital amaurosis, type 17Autosomal recessive
GFER60092416613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delayAutosomal recessive
GFM16066393609060Combined oxidative phosphorylation deficiency, type 1Autosomal recessive
GFPT11382922610542Myasthenia, congenital, type 12, with tubular aggregatesAutosomal recessive
GGCX1371672277450Vitamin K-dependent clotting factors, combined deficiency of, type 1Autosomal recessive
GH113925017262400; 262650Growth hormone deficiency, isolated, type 1A; Kowarski syndromeAutosomal recessive
GHR6009465262500Laron dwarfismAutosomal recessive
GHRHR1391917612781Growth hormone deficiency, isolated, type 1BAutosomal recessive
GHSR6018983615925Growth hormone deficiency, isolated partialAutosomal recessive
GINS161060820617827Immunodeficiency, type 55Autosomal recessive
GIPC360879219601869Deafness, autosomal recessive, type 15Autosomal recessive
GJA11210146218400Craniometaphyseal dysplasia, autosomal recessiveAutosomal recessive
GJB1304040X302800Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1X-linked
GJB212101113220290Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB6 gene)
GJB660441813612645; 220290Deafness, autosomal recessive, type 1B; Deafness, digenic GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB2 gene)
GJC26088031613206Spastic paraplegia, type 44, autosomal recessiveAutosomal recessive
GLA300644X301500Fabry diseaseX-linked
GLB16114583230500, 230600, 230650; 253010GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)Autosomal recessive
GLDC2383009605899Glycine encephalopathyAutosomal recessive
GLDN60860315617194Lethal congenital contracture syndrome 11Autosomal recessive
GLE16033719253310; 611890Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell diseaseAutosomal recessive
GLIS260853916611498Nephronophthisis, type 7Autosomal recessive
GLIS36101929610199Diabetes mellitus, neonatal, with congenital hypothyroidismAutosomal recessive
GLRA11384915149400*Hyperekplexia, type 1Autosomal recessive*
GLRB1384924614619Hyperekplexia, type 2Autosomal recessive
GLRX560958814616860; 616859Anemia, sideroblastic, type 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemiaAutosomal recessive
GLUL1382901610015Glutamine deficiency, congenitalAutosomal recessive
GLYCTK6105163220120D-glyceric aciduriaAutosomal recessive
GM2A6131095272750GM2-gangliosidosis, AB variantAutosomal recessive
GMPPA6154952615510Alacrima, achalasia, and mental retardation syndromeAutosomal recessive
GMPPB6153203615351Muscular dystrophy-dystroglycanopathy 14Autosomal recessive
GNAT11393303616389Night blindness, congenital stationary, type 1GAutosomal recessive
GNAT21393401613856Achromatopsia, type 4Autosomal recessive
GNB560444715617173; 617182Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmiaAutosomal recessive
GNE6038249605820Inclusion body myopathy, type 2 (Nonaka myopathy) Autosomal recessive
GNMT6066286606664Glycine N-methyltransferase deficiencyAutosomal recessive
GNPAT6027441222765Rhizomelic chondrodysplasia punctata, type 2Autosomal recessive
GNPTAB60784012252500; 252600Mucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/betaAutosomal recessive
GNPTG60783816252605Mucolipidosis III gammaAutosomal recessive
GNRHR1388504146110Hypogonadotropic hypogonadism, type 7, without anosmiaAutosomal recessive
GNS60766412252940Mucopolysaccharidosis, type 3D (Sanfilippo syndrome D)Autosomal recessive
GORAB6079831231070Geroderma osteodysplasticumAutosomal recessive
GOSR260402717614018Epilepsy, progressive myoclonic, type 6Autosomal recessive
GOT213815016618721Epileptic encephalopathy, early infantile, 82Autosomal recessive
GP1BA60667217231200Bernard-Soulier syndrome, type A1Autosomal recessive
GP1BB13872022231200Bernard-Soulier syndrome, type BAutosomal recessive
GP660554619614201Bleeding disorder, platelet-type, type 11Autosomal recessive
GP91735153231200Bernard-Soulier syndrome, type CAutosomal recessive
GPAA16030488617810Glycosylphosphatidylinositol biosynthesis defect 15Autosomal recessive
GPC660440413258315Omodysplasia, type 1Autosomal recessive
GPD113842012614480Hypertriglyceridemia, transient infantileAutosomal recessive
GPHN60393014615501Molybdenum cofactor deficiency CAutosomal recessive
GPI17240019613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiencyAutosomal recessive
GPIHBP16127578615947Hyperlipoproteinemia, type 1DAutosomal recessive
GPR143300808X300500Ocular albinism, type 1 (Nettleship-Falls type)X-linked
GPR17961451517614565Night blindness, congenital stationary (complete), type 1E, autosomal recessiveAutosomal recessive
GPR6860140414617217Amelogenesis imperfecta, type 2A6 (hypomaturation type)Autosomal recessive
GPSM26092451604213Chudley-McCullough syndromeAutosomal recessive
GPT213821016616281Mental retardation, autosomal recessive 49Autosomal recessive
GPX413832219250220Spondylometaphyseal dysplasia, Sedaghatian typeAutosomal recessive
GRHL26085768616029Ectodermal dysplasia/short stature syndromeAutosomal recessive
GRHPR6042969260000Hyperoxaluria, primary, type 2Autosomal recessive
GRID26023684616204Spinocerebellar ataxia, autosomal recessive, type 18Autosomal recessive
GRIK21382446611092Mental retardation, autosomal recessive, type, 6Autosomal recessive
GRIN11382499617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveAutosomal recessive
GRIP160459712617667Fraser syndrome 3Autosomal recessive
GRK118038113613411Oguchi disease-2Autosomal recessive
GRM16044736614831Spinocerebellar ataxia, autosomal recessive, type 13Autosomal recessive
GRM66040965257270Night blindness, congenital stationary (complete), type 1B, autosomal recessiveAutosomal recessive
GRN13894517614706Ceroid lipofuscinosis, neuronal, type 11Autosomal recessive
GRXCR16132834613285Deafness, autosomal recessive, type 25Autosomal recessive
GSC13889014602471Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalitiesAutosomal recessive
GSS60100220266130Glutathione synthetase deficiencyAutosomal recessive
GTF2H56087806616395Trichothiodystrophy, type 3, photosensitiveAutosomal recessive
GTPBP26074346617988Jaberi-Elahi syndromeAutosomal recessive
GTPBP360853619616198Combined oxidative phosphorylation deficiency 23Autosomal recessive
GUCY2C60133012614665Meconium ileusAutosomal recessive
GUCY2D60017917204000Leber congenital amaurosis, type 1Autosomal recessive
GUF16170644617065?Epileptic encephalopathy, early infantile, 40Autosomal recessive
GUSB6114997253220Mucopolysaccharidosis, type 7Autosomal recessive
GYG16039423616199Polyglucosan body myopathy, type 2Autosomal recessive
GYS113857019611556Glycogen storage disease, type 0, muscleAutosomal recessive
GYS213857112240600Glycogen storage disease, type 0, liverAutosomal recessive
GZF161384220617662Joint laxity, short stature, and myopiaAutosomal recessive
H6PD1380901604931Cortisone reductase deficiency 1Autosomal recessive
HAAO6045212617660Vertebral, cardiac, renal, and limb defects syndrome 1Autosomal recessive
HACE16108766616756Spastic paraplegia and psychomotor retardation with or without seizuresAutosomal recessive
HADH60160942315303-hydroxyacyl-CoA dehydrogenase deficiencyAutosomal recessive
HADHA6008902609016; 609015Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiencyAutosomal recessive
HADHB1434502609015Mitochondrial trifunctional protein deficiencyAutosomal recessive
HAMP60646419613313Hemochromatosis, type 2BAutosomal recessive
HARS11428105HARS614504Usher syndrome, type 3BAutosomal recessive
HAX16059981610738Neutropenia, severe congenital, type 3, autosomal recessiveAutosomal recessive
HBA114180016604131Thalassemia, alpha-Autosomal recessive
HBA214185016604131Thalassemia, alpha-Autosomal recessive
HBB14190011603903HBB-related hemoglobinopathyAutosomal recessive
HCFC1300019X309541Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )X-linked
HELLS60394610616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4Autosomal recessive
HEPACAM61164211613925Megalencephalic leukoencephalopathy with subcortical cysts 2AAutosomal recessive
HERC160510915617011Macrocephaly, dysmorphic facies, and psychomotor retardationAutosomal recessive
HERC260583715615516Mental retardation, autosomal recessive, type 38Autosomal recessive
HES760805917613686Spondylocostal dysostosis, type 4, autosomal recessiveAutosomal recessive
HESX16018023182230Growth hormone deficiency with pituitary anomaliesAutosomal recessive
HEXA60686915272800Tay-Sachs diseaseAutosomal recessive
HEXB6068735268800Sandhoff disease, infantile, juvenile, and adult formsAutosomal recessive
HFM16156841615724Premature ovarian failure 9Autosomal recessive
HGD6074743203500AlkaptonuriaAutosomal recessive
HGF1424097DFNB39608265Deafness, autosomal recessive, type 39Autosomal recessive
HGSNAT6104538252930Mucopolysaccharidosis type 3C (Sanfilippo syndrome C)Autosomal recessive
HIBCH61069022506203-hydroxyisobutryl-CoA hydrolase deficiencyAutosomal recessive
HIKESHI61490811C11orf73616881Leukodystrophy, hypomyelinating, type 13Autosomal recessive
HINT16013145137200Neuromyotonia and axonal neuropathy, autosomal recessiveAutosomal recessive
HJV6083741HFE2602390Hemochromatosis, type 2AAutosomal recessive
HK114260010605285Charcot-Marie-Tooth disease, type 4GAutosomal recessive
HLCS60901821253270Holocarboxylase synthetase deficiencyAutosomal recessive
HMGCL6138981246450HMG-CoA lyase deficiencyAutosomal recessive
HMGCS26002341605911HMG-CoA synthase-2 deficiencyAutosomal recessive
HMOX114125022614034Heme oxygenase-1 deficiencyAutosomal recessive
HMX11429924612109Oculoauricular syndromeAutosomal recessive
HNMT6052382616739Mental retardation, autosomal recessive, type 51Autosomal recessive
HOGA161359710613616Hyperoxaluria, primary, type 3Autosomal recessive
HOXA11429557601536Athabaskan brainstem dysgenesis syndromeAutosomal recessive
HOXB114296817614744Facial paresis, hereditary congenital, 3Autosomal recessive
HOXC1314297612614931Ectodermal dysplasia 9, hair/nail typeAutosomal recessive
HPCA1426221224500Dystonia 2, torsion, autosomal recessiveAutosomal recessive
HPD60969512276710Tyrosinemia, type 3Autosomal recessive
HPGD6016884259100Hypertrophic osteoarthropathy, primary, type 1 (pachydermoperiostosis)Autosomal recessive
HPRT1308000X300322Lesch-Nyhan syndromeX-linked
HPS160498210203300Hermansky-Pudlak syndrome, type 1Autosomal recessive
HPS36061183614072Hermansky-Pudlak syndrome, type 3Autosomal recessive
HPS460668222614073Hermansky-Pudlak syndrome, type 4Autosomal recessive
HPS560752111614074Hermansky-Pudlak syndrome, type 5Autosomal recessive
HPS660752210614075Hermansky-Pudlak syndrome, type 6Autosomal recessive
HPSE261346910236730Urofacial syndrome, type 1Autosomal recessive
HR6023028203655; 209500Alopecia universalis; Atrichia with papular lesionsAutosomal recessive
HSD11B261423216218030Apparent mineralocorticoid excessAutosomal recessive
HSD17B10300256X300438HSD10 mitochondrial diseaseX-linked
HSD17B3605573926430046,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyAutosomal recessive
HSD17B46018605261515D-bifunctional protein deficiencyAutosomal recessive
HSD3B26138901201810Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiencyAutosomal recessive
HSD3B760776416607765Bile acid synthesis defect, congenital, type 1Autosomal recessive
HSPA96005485616854Even-plus syndromeAutosomal recessive
HSPD11181902612233Leukodystrophy, hypomyelinating, type 4Autosomal recessive
HSPG21424611224410Dyssegmental dysplasia, Silverman-Handmaker typeAutosomal recessive
HTRA160219410600142CARASIL syndromeAutosomal recessive
HTRA260644126172483-methylglutaconic aciduria, type 8Autosomal recessive
HYAL16070713601492?Mucopolysaccharidosis, type 9Autosomal recessive
HYDIN61081216608647Ciliary dyskinesia, primary, type 5Autosomal recessive
HYLS161069311236680Hydrolethalus syndromeAutosomal recessive
IARS16007099IARS617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathyAutosomal recessive
IBA576153161615330Multiple mitochondrial dysfunctions syndrome 3Autosomal recessive
ICOS6045582607594Immunodeficiency, common variable, 1Autosomal recessive
IDH3B60452620612572Retinitis pigmentosa, type 46Autosomal recessive
IDS300823X309900Mucopolysaccharidosis, type 2X-linked
IDUA2528004607014; 607015; 607016Mucopolysaccharidosis type 1Autosomal recessive
IER3IP160938218614231Microcephaly, epilepsy, and diabetes syndromeAutosomal recessive
IFNGR11074706209950Immunodeficiency, type 27A, mycobacteriosisAutosomal recessive
IFNGR214756921614889Immunodeficiency, type 28, mycobacteriosisAutosomal recessive
IFT1226060453218330Cranioectodermal dysplasia 1Autosomal recessive
IFT14061462016617781; 266920Retinitis pigmentosa, type 80; Short-rib thoracic dysplasia 9 with or without polydactylyAutosomal recessive
IFT1726073862615630Short-rib thoracic dysplasia 10 with or without polydactylyAutosomal recessive
IFT4361406814617866Short-rib thoracic dysplasia 18 with polydactylyAutosomal recessive
IFT5261709420617102Short-rib thoracic dysplasia 16 with or without polydactylyAutosomal recessive
IFT806111773611263Short-rib thoracic dysplasia, type 2, with or without polydactylyAutosomal recessive
IFT8160548912617895Short-rib thoracic dysplasia 19 with or without polydactylyAutosomal recessive
IGF114744012608747Growth retardation with deafness and mental retardation due to IGF1 deficiencyAutosomal recessive
IGF1R14737015270450*Insulin-like growth factor I, resistance toAutosomal recessive*
IGFALS60148916615961Acid-labile subunit deficiency Autosomal recessive
IGFBP76028674614224Retinal arterial macroaneurysm with supravalvular pulmonic stenosisAutosomal recessive
IGHMBP260050211616155Charcot-Marie-Tooth disease, axonal, type 2SAutosomal recessive
IGLL114677022613500Agammaglobulinemia 2Autosomal recessive
IHH6007262607778Acrocapitofemoral dysplasiaAutosomal recessive
IKBKB6032588615592Immunodeficiency, type 15Autosomal recessive
IL10RA14693311613148Inflammatory bowel disease, type 28, early onset, autosomal recessiveAutosomal recessive
IL10RB12388921612567Inflammatory bowel disease, type 25, early onset, autosomal recessiveAutosomal recessive
IL11RA6009399614188Craniosynostosis and dental anomaliesAutosomal recessive
IL12B1615615614890Immunodeficiency, type 29, mycobacteriosisAutosomal recessive
IL12RB160160419614891Immunodeficiency, type 30Autosomal recessive
IL17RA60546122613953Immunodeficiency, type 51Autosomal recessive
IL17RC6109253616445Candidiasis, familial, 9Autosomal recessive
IL1RAPL1300206X300143Mental retardation, X-linked, type 21/34X-linked
IL1RN1476792612852Sterile multifocal osteomyelitis with periostitis and pustulosisAutosomal recessive
IL21R60538316615207Immunodeficiency, type 56Autosomal recessive
IL2RA14773010606367Immunodeficiency, type 41, with lymphoproliferation and autoimmunityAutosomal recessive
IL2RG308380X300400Severe combined immunodeficiency, X-linkedX-linked
IL36RN6055072614204Psoriasis, type 14, pustularAutosomal recessive
IL7R1466615608971Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive typeAutosomal recessive
ILDR16097393609646Deafness, autosomal recessive, type 42Autosomal recessive
IMPA16020648617323Mental retardation, autosomal recessive 59Autosomal recessive
IMPG26070563613581Retinitis pigmentosa, type 56Autosomal recessive
INPP5E6130379213300Joubert syndrome, type 1Autosomal recessive
INPP5K60787517617404Muscular dystrophy, congenital, with cataracts and intellectual disabilityAutosomal recessive
INPPL160082911258480OpsismodysplasiaAutosomal recessive
INS17673011606176*Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
INSR14767019610549Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type AAutosomal recessive
INTS16113457618571Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic faciesAutosomal recessive
INVS2433059602088Nephronophthisis, type 2, infantileAutosomal recessive
IQCB16092373609254Senior-Loken syndrome, type 5Autosomal recessive
IQCE6176317617642Polydactyly, postaxial, type A7Autosomal recessive
IRAK460688312607676Immunodeficiency, type 67 (IRAK4 deficiency)Autosomal recessive
IRF860156516614894Immunodeficiency, type 32B, monocyte and dendritic cell deficiencyAutosomal recessive
IRX560619516611174Hamamy syndromeAutosomal recessive
ISCA16110069617613Multiple mitochondrial dysfunctions syndrome 5Autosomal recessive
ISCA261531714616370Multiple mitochondrial dysfunctions syndrome 4Autosomal recessive
ISCU61191112255125Myopathy with lactic acidosis, hereditaryAutosomal recessive
ISG151475711616126Immunodeficiency, type 38Autosomal recessive
ITCH60640920613385Autoimmune disease, multisystem, with facial dysmorphismAutosomal recessive
ITGA2B60775917273800Glanzmann thrombastheniaAutosomal recessive
ITGA360502517614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenitalAutosomal recessive
ITGA61475562226730Epidermolysis bullosa, junctional, with pyloric stenosisAutosomal recessive
ITGA760053612613204Muscular dystrophy, congenital, due to ITGA7 deficiencyAutosomal recessive
ITGA860406310191830Renal hypodysplasia/aplasia 1Autosomal recessive
ITGB260006521116920Leukocyte adhesion deficiencyAutosomal recessive
ITGB317347017273800Glanzmann thrombastheniaAutosomal recessive
ITGB414755717226730Epidermolysis bullosa, junctional, with pyloric atresiaAutosomal recessive
ITGB61475582616221Amelogenesis imperfecta, type 1HAutosomal recessive
ITK1869735613011Lymphoproliferative syndrome 1Autosomal recessive
ITPA14752020616647Epileptic encephalopathy, early infantile, type 35Autosomal recessive
ITPR11472653206700*Gillespie syndromeAutosomal recessive*
IVD60703615243500Isovaleric acidemiaAutosomal recessive
IYD6120256274800Thyroid dyshormonogenesis, type 4Autosomal recessive
JAGN16160123616022Neutropenia, severe congenital, 6, autosomal recessiveAutosomal recessive
JAK360017319600802Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive typeAutosomal recessive
JAM360687111613730Hemorrhagic destruction of the brain, subependymal calcification, and cataractsAutosomal recessive
JUP17332517601214Naxos diseaseAutosomal recessive
KANK261461019617783Nephrotic syndrome, type 16Autosomal recessive
KARS160142116KARS613916Deafness, autosomal recessive, type 89Autosomal recessive
KATNB160270316616212Lissencephaly 6, with microcephalyAutosomal recessive
KATNIP61665016KIAA0556616784Joubert syndrome 26Autosomal recessive
KCNE117626121612347Jervell and Lange-Nielsen syndrome 2Autosomal recessive
KCNJ160035911241200Bartter syndrome, type 2Autosomal recessive
KCNJ106022081612780SESAME syndromeAutosomal recessive
KCNJ1160093711601820; 606176*Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive; Autosomal recessive*
KCNJ136032082614186Leber congenital amaurosis, type 16Autosomal recessive
KCNV26076049610356Retinal cone dystrophy, type 3BAutosomal recessive
KCTD76117257611726Epilepsy, progressive myoclonic, type 3, with or without intracellular inclusionsAutosomal recessive
KDM5C314690X300534Mental retardation, X-linked, syndromic, Claes-Jensen typeX-linked
KDSR13644018617526Erythrokeratodermia variabilis et progressiva 4Autosomal recessive
KERA60328812217300Cornea plana 2, autosomal recessiveAutosomal recessive
KHDC3L6116876614293Hydatidiform mole, recurrent, type 2Autosomal recessive
KIAA058661017814616546Short-rib thoracic dysplasia 14 with polydactylyAutosomal recessive
KIAA075361711217617127?Orofaciodigital syndrome, type 15Autosomal recessive
KIAA11096115654617822Alkuraya-Kucinskas syndromeAutosomal recessive
KIAA15496133447618613Retinitis pigmentosa, type 86Autosomal recessive
KIF146112791617914; 616258Microcephaly 20, primary, autosomal recessive; ?Meckel syndrome 12Autosomal recessive
KIF1A6012552614213; 610357Neuropathy, hereditary sensory, type 2C; Spastic paraplegia, type 30, autosomal recessiveAutosomal recessive
KIF1C60306017611302Spastic ataxia 2, autosomal recessiveAutosomal recessive
KIF761125415200990Acrocallosal syndrome; Joubert syndrome, type 12Autosomal recessive
KIFBP60936710KIF1BP; KIAA1279609460Goldberg-Shprintzen megacolon syndromeAutosomal recessive
KISS1R60416119614837Hypogonadotropic hypogonadism, type 8, with or without anosmiaAutosomal recessive
KIZ61575720615780Retinitis pigmentosa 69Autosomal recessive
KLHL36057755614495Pseudohypoaldosteronism, type 2DAutosomal recessive
KLHL406153403615348Nemaline myopathy 8, autosomal recessiveAutosomal recessive
KLHL416077012615731Nemaline myopathy 9Autosomal recessive
KLHL76111197617055Cold-induced sweating syndrome 3Autosomal recessive
KLK460376719204700Amelogenesis imperfecta, type 2A1 (hypomaturation type)Autosomal recessive
KLKB12290004612423Fletcher factor (prekallikrein) deficiencyAutosomal recessive
KNL160917315CASC5604321Microcephaly 4, primary, autosomal recessiveAutosomal recessive
KPTN61562019615637Mental retardation, autosomal recessive 41Autosomal recessive
KREMEN160989822617392Ectodermal dysplasia 13, hair/tooth typeAutosomal recessive
KRT1014808017113800*Epidermolytic hyperkeratosisAutosomal recessive*
KRT1414806617601001Epidermolysis bullosa simplex, autosomal recessive, type 1Autosomal recessive
KRT2561664617616760Woolly hair, autosomal recessive 3Autosomal recessive
KRT514804012601001Epidermolysis bullosa simplex, autosomal recessive, type 1Autosomal recessive
KRT8560276712602032Ectodermal dysplasia 4, hair/nail typeAutosomal recessive
KY6057393617114Myopathy, myofibrillar, type 7Autosomal recessive
KYNU6051972617661Vertebral, cardiac, renal, and limb defects syndrome, type 2Autosomal recessive
L1CAM308840X307000; 303350; 304100L1 SyndromeX-linked
L2HGDH60958414236792L-2-hydroxyglutaric aciduriaAutosomal recessive
LAMA115032018615960Poretti-Boltshauser syndromeAutosomal recessive
LAMA21562256607855; 618138LAMA2-related muscular dystrophyAutosomal recessive
LAMA360080518226700; 226650Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessive
LAMB11502407615191Lissencephaly, type 5Autosomal recessive
LAMB21503253609049; 614199Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalitiesAutosomal recessive
LAMB31503101226700; 226650Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessive
LAMC21502921226700; 226650Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessive
LAMC36043499614115Cortical malformations, occipitalAutosomal recessive
LARGE160359022LARGE613154; 608840Muscular dystrophy-dystroglycanopathy, type 6A and 6BAutosomal recessive
LARP76120264615071Alazami syndromeAutosomal recessive
LARS11513505LARS615438?Infantile liver failure syndrome 1 (ILFS1)Autosomal recessive
LARS26045443615300Perrault syndrome, type 4Autosomal recessive
LAT60235416617514Immunodeficiency, type 52Autosomal recessive
LBR6000241215140Greenberg skeletal dysplasiaAutosomal recessive
LCA56114086604537Leber congenital amaurosis, type 5Autosomal recessive
LCAT60696716245900; 136120Familial LCAT deficiency; Fish-eye diseaseAutosomal recessive
LCK1533901615758?Immunodeficiency, type 22Autosomal recessive
LCT6032022223000Lactase deficiency, congenitalAutosomal recessive
LDHA15000011612933Glycogen storage disease type 11Autosomal recessive
LDLRAP16057471603813Hypercholesterolemia, familial, autosomal recessiveAutosomal recessive
LEMD26163126212500Cataract 46, juvenile-onsetAutosomal recessive
LEP1641607614962Obesity, morbid, due to leptin deficiencyAutosomal recessive
LEPR6010071614963Obesity, morbid, due to leptin receptor deficiencyAutosomal recessive
LGI460830319617468Arthrogryposis multiplex congenita, neurogenic, with myelin defectAutosomal recessive
LHB15278019228300Hypogonadotropic hypogonadism, type 23, with or without anosmiaAutosomal recessive
LHCGR1527902238320Leydig cell hypoplasiaAutosomal recessive
LHFPL56094276610265Deafness, autosomal recessive, type 67Autosomal recessive
LHX36005779221750Pituitary hormone deficiency, combined, type 3Autosomal recessive
LIAS6070314614462Hyperglycinemia, lactic acidosis, and seizuresAutosomal recessive
LIFR1514435601559Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndromeAutosomal recessive
LIG460183713606593LIG4 syndromeAutosomal recessive
LIM215404519615277Cataract 19, multiple typesAutosomal recessive
LINS161035015LINS614340Mental retardation, autosomal recessive, type 27Autosomal recessive
LIPA61349710278000Lysosomal acid lipase deficiencyAutosomal recessive
LIPE15175019615980Lipodystrophy, familial partial, type 6Autosomal recessive
LIPH6073653604379Hypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosis Autosomal recessive
LIPN61392410613943Ichthyosis, congenital, autosomal recessive 8Autosomal recessive
LIPT16102842616299Lipoyltransferase 1 deficiencyAutosomal recessive
LIPT261765911617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalitiesAutosomal recessive
LMAN160156718227300Combined deficiency of factor V and factor VIII, type 1Autosomal recessive
LMBRD16126256277380Methylmalonic aciduria and homocystinuria, cblF typeAutosomal recessive
LMF161176116246650Lipase deficiency, combinedAutosomal recessive
LMNA1503301605588; 616516LMNA-related disorders, autosomal recessiveAutosomal recessive
LMOD36161123616165Nemaline myopathy 10Autosomal recessive
LONP160549019600373CODAS syndromeAutosomal recessive
LOXHD161307218613079Deafness, autosomal recessive, type 77Autosomal recessive
LPAR660923913278150Hypotrichosis, type 8 or woolly hair, autosomal recessive, type 1, with or without hypotrichosisAutosomal recessive
LPIN16055182268200Myoglobinuria, acute recurrent, autosomal recessiveAutosomal recessive
LPIN260551918609628Majeed syndromeAutosomal recessive
LPL6097088238600Lipoprotein lipase deficiencyAutosomal recessive
LRAT6048634613341Leber congenital amaurosis type 14Autosomal recessive
LRBA6064534614700Immunodeficiency, common variable, 8, with autoimmunityAutosomal recessive
LRIG26088691615112Urofacial syndrome 2Autosomal recessive
LRIT36150044615058Night blindness, congenital stationary (complete), 1F, autosomal recessiveAutosomal recessive
LRMDA61453710C10orf11615179Albinism, oculocutaneous, type 7Autosomal recessive
LRP26000732222448Donnai-Barrow syndromeAutosomal recessive
LRP460427011212780Cenani-Lenz syndactyly syndromeAutosomal recessive
LRP560350611259770Osteoporosis-pseudoglioma syndromeAutosomal recessive
LRPAP11042254615431Myopia, type 23, autosomal recessiveAutosomal recessive
LRPPRC6075442220111Leigh syndrome, French-Canadian typeAutosomal recessive
LRRC66149308614935Ciliary dyskinesia, primary, type 19Autosomal recessive
LRSAM16109339614436Charcot-Marie-Tooth disease, axonal, type 2PAutosomal recessive
LRTOMT61241411611451Deafness, autosomal recessive, type 63Autosomal recessive
LSS60090921616509Cataract 44Autosomal recessive
LTBP260209114251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaAutosomal recessive
LTBP360209011601216Dental anomalies and short statureAutosomal recessive
LTBP460471019613177Cutis laxa, autosomal recessive, type 1CAutosomal recessive
LYRM76158315615838Mitochondrial complex III deficiency, nuclear type 8Autosomal recessive
LYST6068971214500Chediak-Higashi syndromeAutosomal recessive
LZTFL16065683615994Bardet-Biedl syndrome, type 17Autosomal recessive
LZTR160057422605275Noonan syndrome, type 2Autosomal recessive
MAG15946019616680Spastic paraplegia, type 75, autosomal recessiveAutosomal recessive
MAGI26063827617609Nephrotic syndrome, type 15Autosomal recessive
MAK1542356614181Retinitis pigmentosa type 62Autosomal recessive
MALT160486018615468Immunodeficiency, type 12Autosomal recessive
MAN1B16043469614202Mental retardation, autosomal recessive, type 15Autosomal recessive
MAN2B160945819248500Alpha-mannosidosisAutosomal recessive
MANBA6094894248510Mannosidosis, betaAutosomal recessive
MAP3K206094792ZAK617760Centronuclear myopathy, type 6, with fiber-type disproportionAutosomal recessive
MAPKBP161678615617271Nephronophthisis 20Autosomal recessive
MAPT15714017260540Supranuclear palsy, progressive atypical (parkinsonism syndrome)Autosomal recessive
MARS115656012MARS615486Interstitial lung and liver diseaseAutosomal recessive
MARS26097282611390Spastic ataxia, type 3, autosomal recessiveAutosomal recessive
MARVELD26105725610153Deafness, autosomal recessive, type 49Autosomal recessive
MASP160052132579203MC syndrome 1Autosomal recessive
MAT1A61055010250850Methionine adenosyltransferase deficiency, autosomal recessiveAutosomal recessive
MATN36021092608728?Spondyloepimetaphyseal dysplasiaAutosomal recessive
MBOAT760604819617188Mental retardation, autosomal recessive 57Autosomal recessive
MC2R60739718202200Glucocorticoid deficiency, due to ACTH unresponsivenessAutosomal recessive
MCCC160901032102003-Methylcrotonyl-CoA carboxylase deficiency, type 1Autosomal recessive
MCCC260901452102103-Methylcrotonyl-CoA carboxylase deficiency, type 2Autosomal recessive
MCEE6084192251120Methylmalonyl-CoA epimerase deficiencyAutosomal recessive
MCFD26077882613625Combined deficiency of factor V and factor VIII, type 2Autosomal recessive
MCIDAS6140865618695Ciliary dyskinesia, primary, type 42Autosomal recessive
MCM3AP60329421618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentAutosomal recessive
MCM46026388609981Immunodeficiency, type 54Autosomal recessive
MCM96100986616185Ovarian dysgenesis 4Autosomal recessive
MCOLN160524819252650Mucolipidosis type 4Autosomal recessive
MCPH16071178251200Microcephaly type 1, primary, autosomal recessiveAutosomal recessive
MDH21541007617339Epileptic encephalopathy, early infantile, 51Autosomal recessive
MECP2300005X300673; 312750Encephalopathy, neonatal severe; Rett syndromeX-linked
MECR6082051617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesAutosomal recessive
MED1760381011613668Microcephaly, postnatal progressive, with seizures and brain atrophyAutosomal recessive
MED236050426614249Mental retardation, autosomal recessive, type 18Autosomal recessive
MED2561019719616449Basel-Vanagait-Smirin-Yosef syndromeAutosomal recessive
MEFV60810716249100Familial Mediterranean feverAutosomal recessive
MEGF106124535614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onsetAutosomal recessive
MEGF860426719614976Carpenter syndrome, type 2Autosomal recessive
MEOX160014717214300Klippel-Feil syndrome 2Autosomal recessive
MERTK6047052613862Retinitis pigmentosa type 38Autosomal recessive
MESP260519515608681Spondylocostal dysostosis, type 2, autosomal recessiveAutosomal recessive
METTL2361526217615942Mental retardation, autosomal recessive 44Autosomal recessive
MFF6147852617086Encephalopathy due to defective mitochondrial and peroxisomal fission, type 2Autosomal recessive
MFN26085071617087Charcot-Marie-Tooth disease, axonal, type 2A2BAutosomal recessive
MFRP60622711611040Microphthalmia, isolated type 5Autosomal recessive
MFSD2A6143971616486Microcephaly 15, primary, autosomal recessiveAutosomal recessive
MFSD86111244610951Ceroid lipofuscinosis, neuronal, type 7Autosomal recessive
MGAT260261614212066Congenital disorder of glycosylation, type 2aAutosomal recessive
MGME161507620615084Mitochondrial DNA depletion syndrome 11Autosomal recessive
MGP15487012245150Keutel syndromeAutosomal recessive
MICU160508410615673Myopathy with extrapyramidal signsAutosomal recessive
MIPEP60224113617228Combined oxidative phosphorylation deficiency 31Autosomal recessive
MITF1568453617306COMMAD syndromeAutosomal recessive
MKKS60489620605231Bardet-Biedl syndrome type 6Autosomal recessive
MKS160988317615990; 249000; 617121Bardet-Biedl syndrome type 13; Meckel syndrome, type 1; Joubert syndrome, type 28Autosomal recessive
MLC160590822604004Megalencephalic leukoencephalopathy with subcortical cystsAutosomal recessive
MLPH6065262609227Griscelli syndrome, type 3Autosomal recessive
MLYCD60676116248360Malonyl-CoA decarboxylase deficiencyAutosomal recessive
MMAA6074814251100Methylmalonic aciduria, vitamin B12-responsiveAutosomal recessive
MMAB60756812251110Methylmalonic aciduria, vitamin B12-responsive, type cblBAutosomal recessive
MMACHC6098311277400Methylmalonic aciduria and homocystinuria, cblC typeAutosomal recessive, digenic inheritance (PRDX1 gene)
MMADHC6119352277410Homocystinuria, cblD type, variant 1Autosomal recessive
MME1205203617017*Charcot-Marie-Tooth disease, axonal, type 2TAutosomal recessive*
MMP1360010811250400Metaphyseal dysplasia, Spahr typeAutosomal recessive
MMP212036016259600Multicentric osteolysis, nodulosis, and arthropathy (MONA)Autosomal recessive
MMP2060462911612529Amelogenesis imperfecta, type 2A2 (hypomaturation type)Autosomal recessive
MMP2160841610616749Heterotaxy, visceral, 7, autosomalAutosomal recessive
MMUT6090586MUT251000Methylmalonic aciduria, mut(0) typeAutosomal recessive
MOCOS61327418603592Xanthinuria, type 2Autosomal recessive
MOCS16037076252150Molybdenum cofactor deficiency AAutosomal recessive
MOCS26037085252160Molybdenum cofactor deficiency BAutosomal recessive
MOGS6013362606056Congenital disorder of glycosylation, type 2BAutosomal recessive
MPC16147386614741Mitochondrial pyruvate carrier deficiencyAutosomal recessive
MPDU160404117609180Congenital disorder of glycosylation, type 1FAutosomal recessive
MPDZ6037859615219Hydrocephalus, congenital, type 2, with or without brain or eye anomaliesAutosomal recessive
MPI15455015602579Congenital disorder of glycosylation, type 1BAutosomal recessive
MPIG6B6065206C6orf25617441Thrombocytopenia, anemia, and myelofibrosisAutosomal recessive
MPL1595301604498Thrombocytopenia, congenital amegakaryocyticAutosomal recessive
MPLKIP6091887234050Trichothiodystrophy, type 4, nonphotosensitiveAutosomal recessive
MPO60698917254600Myeloperoxidase deficiencyAutosomal recessive
MPV171379602256810; 618400Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EEAutosomal recessive
MPZ1594401145900*Dejerine-Sottas diseaseAutosomal recessive*
MRAP60919621607398Glucocorticoid deficiency, type 2Autosomal recessive
MRE1160081411MRE11A604391Ataxia-telangiectasia-like disorder 1Autosomal recessive
MRPS1660920410610498Combined oxidative phosphorylation deficiency 2Autosomal recessive
MRPS226058103611719Combined oxidative phosphorylation deficiency type 5Autosomal recessive
MRPS3461199416617664Combined oxidative phosphorylation deficiency 32Autosomal recessive
MSH36008875617100Familial adenomatous polyposis, type 4Autosomal recessive
MSMO16075454616834Microcephaly, congenital cataract, and psoriasiform dermatitisAutosomal recessive
MSRB361371912613718Deafness, autosomal recessive, type 74Autosomal recessive
MSTO16176191617675*Myopathy, mitochondrial, and ataxiaAutosomal recessive*
MTFMT61176615614947Combined oxidative phosphorylation deficiency 15Autosomal recessive
MTHFD117246014617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaAutosomal recessive
MTHFR6070931236250Homocystinuria due to MTHFR deficiencyAutosomal recessive
MTM1300415X310400Myotubular myopathy, X-linkedX-linked
MTMR260355711601382Charcot-Marie-Tooth disease, type 4B1Autosomal recessive
MTO16146676614702Combined oxidative phosphorylation deficiency 10Autosomal recessive
MTR1565701250940Homocystinuria-megaloblastic anemia, cblG complementation typeAutosomal recessive
MTRR6025685236270Homocystinuria-megaloblastic anemia, cbl E typeAutosomal recessive
MTTP1571474200100AbetalipoproteinemiaAutosomal recessive
MUSK6012969208150; 616325Fetal akinesia deformation sequence, type 1; Myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiencyAutosomal recessive
MUTYH6049331608456Adenomas, multiple colorectalAutosomal recessive
MVK25117012610377Mevalonic aciduriaAutosomal recessive
MYBPC116079412614915Lethal congenital contracture syndrome, type 4Autosomal recessive
MYD886021703612260Immunodeficiency, type 68Autosomal recessive
MYH216074017605637Proximal myopathy and ophthalmoplegiaAutosomal recessive
MYMK6153459TMEM8C254940Carey-Fineman-Ziter syndromeAutosomal recessive
MYO15A60266617600316Deafness, autosomal recessive, type 3Autosomal recessive
MYO18B60729522616549Klippel-Feil syndrome, type 4, autosomal recessive, with myopathy and facial dysmorphismAutosomal recessive
MYO1E60147915614131Glomerulosclerosis, focal segmental, 6Autosomal recessive
MYO3A60680810607101Deafness, autosomal recessive, type 30Autosomal recessive
MYO5A16077715214450Griscelli syndrome, type 1Autosomal recessive
MYO5B60654018251850Microvillus inclusion diseaseAutosomal recessive
MYO66009706607821Deafness, autosomal recessive, type 37Autosomal recessive
MYO7A27690311276900; 600060Usher syndrome, type 1B; Deafness, autosomal recessive, type 2Autosomal recessive
MYPN60851710617336Nemaline myopathy, type 11, autosomal recessiveAutosomal recessive
NADK261578756160342,4-dienoyl-CoA reductase deficiencyAutosomal recessive
NAGA10417022609241Schindler disease, type IAutosomal recessive
NAGLU60970117252920Mucopolysaccharidosis, type 3B (Sanfilippo B)Autosomal recessive
NAGS60830017237310N-acetylglutamate synthase deficiencyAutosomal recessive
NALCN61154913615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1Autosomal recessive
NANS6052029610442Spondyloepimetaphyseal dysplasia, Camera-Genevieve typeAutosomal recessive
NARS261280311616239Combined oxidative phosphorylation deficiency 24Autosomal recessive
NAXE6088621APOA1BP617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathyAutosomal recessive
NBAS6080252616483; 614800Infantile liver failure syndrome, type 2; Short stature, optic nerve atrophy, and Pelger-Huet anomalyAutosomal recessive
NBEAL26141693139090Gray platelet syndromeAutosomal recessive
NBN6026678251260Nijmegen breakage syndromeAutosomal recessive
NCAPD360927611617984Microcephaly 22, primary, autosomal recessiveAutosomal recessive
NCF16085127233700Chronic granulomatous disease, type 1Autosomal recessive
NCF26085151233710Chronic granulomatous disease, type 2Autosomal recessive
NCF460148822613960Chronic granulomatous disease, type 3Autosomal recessive
NDE160944916614019Lissencephaly, type 4 (with microcephaly)Autosomal recessive
NDP300658X310600Norrie diseaseX-linked
NDRG16052628601455Charcot-Marie-Tooth disease, type 4DAutosomal recessive
NDST16008535616116Mental retardation, autosomal recessive, type 46Autosomal recessive
NDUFA106038352618243Mitochondrial complex I deficiency, nuclear type 22Autosomal recessive
NDUFA1161263819618236Mitochondrial complex I deficiency, nuclear type 14Autosomal recessive
NDUFA1261453012618244?Mitochondrial complex I deficiency, nuclear type 23Autosomal recessive
NDUFA26021375618235Mitochondrial complex I deficiency, nuclear type 13Autosomal recessive
NDUFA960383412618247Mitochondrial complex I deficiency, nuclear type 26Autosomal recessive
NDUFAF160693415618234Mitochondrial complex I deficiency, nuclear type 11Autosomal recessive
NDUFAF26096535618233Mitochondrial complex I deficiency, nuclear type 10Autosomal recessive
NDUFAF36129113618240Mitochondrial complex I deficiency, nuclear type 18Autosomal recessive
NDUFAF561236020618238Mitochondrial complex I deficiency, nuclear type 16Autosomal recessive
NDUFAF66123928618239Mitochondrial complex I deficiency, nuclear type 17Autosomal recessive
NDUFB36038392618246Mitochondrial complex I deficiency, nuclear type 25Autosomal recessive
NDUFB96014458618245Mitochondrial complex I deficiency, nuclear type 24Autosomal recessive
NDUFS11576552618226Mitochondrial complex I deficiency, nuclear type 5Autosomal recessive
NDUFS26029851618228Mitochondrial complex I deficiency, nuclear type 6Autosomal recessive
NDUFS360384611618230Mitochondrial complex I deficiency, nuclear type 8Autosomal recessive
NDUFS46026945252010Mitochondrial complex I deficiency, nuclear type 1Autosomal recessive
NDUFS66038485618232Mitochondrial complex I deficiency, nuclear type 9Autosomal recessive
NDUFS760182519618224Mitochondrial complex I deficiency, nuclear type 3Autosomal recessive
NDUFS860214111618222Mitochondrial complex I deficiency, nuclear type 2Autosomal recessive
NDUFV116101511618225Mitochondrial complex I deficiency, nuclear type 4Autosomal recessive
NDUFV260053218618229Mitochondrial complex I deficiency, nuclear type 7Autosomal recessive
NEB1616502256030Nemaline myopathy type 2Autosomal recessive
NECTIN160064411PVRL1225060Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7Autosomal recessive
NECTIN46096071PVRL4613573Ectodermal dysplasia-syndactyly syndrome, type 1Autosomal recessive
NEFL1622808607734Charcot-Marie-Tooth disease, type 1FAutosomal recessive
NEK16045884263520Short-rib thoracic dysplasia, type 6, with or without polydactylyAutosomal recessive
NEK860979917615415Renal-hepatic-pancreatic dysplasia, type 2Autosomal recessive
NEK960979814617022Lethal congenital contracture syndrome 10Autosomal recessive
NEU16082726256550Sialidosis, type 1 and type 2 Autosomal recessive
NEUROG360488210610370Diarrhea 4, malabsorptive, congenitalAutosomal recessive
NFU16081002605711Multiple mitochondrial dysfunctions syndrome 1Autosomal recessive
NGF1620301608654Neuropathy, hereditary sensory and autonomic, type 5Autosomal recessive
NGLY16106613615273Congenital disorder of deglycosylationAutosomal recessive
NHEJ16112902611291Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiationAutosomal recessive
NHLRC16080726254780Epilepsy, progressive myoclonic, type 2B (Lafora)Autosomal recessive
NHP26064705613987Dyskeratosis congenita, autosomal recessive type 2Autosomal recessive
NIN60868414614851Seckel syndrome, type 7Autosomal recessive
NIPAL46093835612281Ichthyosis, congenital, autosomal recessive, type 6Autosomal recessive
NKX2-66117708217095Conotruncal heart malformationsAutosomal recessive
NKX3-26021834613330Spondylo-megaepiphyseal-metaphyseal dysplasiaAutosomal recessive
NKX6-260595510617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophyAutosomal recessive
NLRP160663617617388*Autoinflammation with arthritis and dyskeratosisAutosomal recessive*
NLRP760966119231090Hydatidiform mole, recurrent, type 1Autosomal recessive
NME86074217610852Ciliary dyskinesia, primary, type 6Autosomal recessive
NMNAT16087001608553Leber congenital amaurosis type 9Autosomal recessive
NNT6078785614736Glucocorticoid deficiency 4, with or without mineralocorticoid deficiencyAutosomal recessive
NOP1060647115224230Dyskeratosis congenita, autosomal recessive type 1Autosomal recessive
NPC160762318257220Niemann-Pick disease, type C1Autosomal recessive
NPC260101514607625Niemann-pick disease, type C2Autosomal recessive
NPHP16071002609583Joubert syndrome type 4Autosomal recessive
NPHP36080023267010Meckel syndrome type 7Autosomal recessive
NPHP46072151606966Nephronophthisis type 4Autosomal recessive
NPHS160271619256300Nephrotic syndrome, type 1Autosomal recessive
NPHS26047661600995Nephrotic syndrome, type 2Autosomal recessive
NPR21089619602875Acromesomelic dysplasia, Maroteaux typeAutosomal recessive
NR0B1300473X300200Adrenal hypoplasia, congenitalX-linked
NR1H460382612617049Cholestasis, progressive familial intrahepatic, type 5Autosomal recessive
NR2E360448515268100; 611131*Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37Autosomal recessive; Autosomal recessive*
NRL16208014613750*Retinal degeneration, autosomal recessive, clumped pigment typeAutosomal recessive*
NRXN16005652614325Pitt-Hopkins-like syndrome, type 2Autosomal recessive
NSMCE26172468617253Seckel syndrome, type 10Autosomal recessive
NSUN26109165611091Mental retardation, autosomal recessive, type 5Autosomal recessive
NT5C260041710613162Spastic paraplegia, type 45, autosomal recessiveAutosomal recessive
NT5C3A6062247266120Anemia, hemolytic, due to UMPH1 deficiencyAutosomal recessive
NT5E1291906211800Calcification of joints and arteriesAutosomal recessive
NTHL160265616616415Familial adenomatous polyposis, type 3Autosomal recessive
NTRK11913151256800Insensitivity to pain, congenital, with anhidrosisAutosomal recessive
NUBPL61362114618242Mitochondrial complex I deficiency, nuclear type 21Autosomal recessive
NUP10760761712616730Nephrotic syndrome, type 11Autosomal recessive
NUP6260581519271930Striatonigral degeneration, infantileAutosomal recessive
NUP9361435116616892Nephrotic syndrome, type 12Autosomal recessive
OAT61334910258870Gyrate atrophy of choroid and retinaAutosomal recessive
OBSL161099126129213M syndrome 2Autosomal recessive
OCA261140915203200Oculocutaneous albinism type 2Autosomal recessive
OCLN6028765251290Pseudo-TORCH syndrome, type 1Autosomal recessive
OCRL300535X309000; 300555Lowe Syndrome; Dent disease type 2X-linked
ODAD161503819CCDC114615067Ciliary dyskinesia, primary, type 20Autosomal recessive
ODAD261540810ARMC4615451Ciliary dyskinesia, primary, type 23Autosomal recessive
ODAD361595619CCDC151616037Ciliary dyskinesia, primary, type 30Autosomal recessive
OPA16052903210000Behr syndromeAutosomal recessive
OPA3606580192585013-methylglutaconic aciduria, type 3Autosomal recessive
OPHN1300127X300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearanceX-linked
OPTN60243210613435Amyotrophic lateral sclerosis, type 12Autosomal recessive
ORAI161027712612782Immunodeficiency, type 9Autosomal recessive
ORC16019021224690Meier-Gorlin syndrome, type 1Autosomal recessive
ORC46030562613800Meier-Gorlin syndrome, type 2Autosomal recessive
ORC660721316613803Meier-Gorlin syndrome, type 3Autosomal recessive
OSGEP61010714617729Galloway-Mowat syndrome 3Autosomal recessive
OSTM16076496259720Osteopetrosis, autosomal recessive type 5Autosomal recessive
OTC300461X311250Ornithine transcarbamylase deficiencyX-linked
OTOA60703816607039Deafness, autosomal recessive, type 22Autosomal recessive
OTOF6036812601071Deafness, autosomal recessive, type 9Autosomal recessive
OTOG60448711614945Deafness, autosomal recessive, type 18BAutosomal recessive
OTOGL61492512614944Deafness, autosomal recessive, type 84BAutosomal recessive
OTUD6B6120218617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomaliesAutosomal recessive
OTULIN6157125FAM105B617099Autoinflammation, panniculitis, and dermatosis syndromeAutosomal recessive
OXCT16014245245050Succinyl CoA:3-oxoacid CoA transferase deficiencyAutosomal recessive
P2RY126005153609821Bleeding disorder, platelet-type, type 8Autosomal recessive
P3H16103391LEPRE1610915Osteogenesis imperfecta, type 8Autosomal recessive
P3H26103413LEPREL1614292Myopia, high, with cataract and vitreoretinal degenerationAutosomal recessive
PADI36067551191480Uncombable hair syndromeAutosomal recessive
PADI66103631617234Preimplantation embryonic lethality 2Autosomal recessive
PAH61234912261600PhenylketonuriaAutosomal recessive
PAK3300142X300558Mental retardation, X-linked, type 30X-linked
PALB261035516610832Fanconi anemia, complementation group NAutosomal recessive
PAM1661433616613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike typeAutosomal recessive
PANK260615720234200Neurodegeneration with brain iron accumulation type 1Autosomal recessive
PAPSS260300510612847Brachyolmia, type 4, with mild epiphyseal and metaphyseal changesAutosomal recessive
PARK76025331606324Parkinson disease, type 7, autosomal recessive, early-onsetAutosomal recessive
PARN60421216616353Dyskeratosis congenita, autosomal recessive 6Autosomal recessive
PATL261466115617743Oocyte maturation defect 4Autosomal recessive
PAX71674101268220Rhabdomyosarcoma 2, alveolarAutosomal recessive
PC60878611266150Pyruvate carboxylase deficiencyAutosomal recessive
PCARE6134252C2orf71613428Retinitis pigmentosa, type 54Autosomal recessive
PCBD112609010264070Hyperphenylalaninemia, BH4-deficient, type DAutosomal recessive
PCCA23200013606054Propionic acidemiaAutosomal recessive
PCCB2320503606054Propionic acidemiaAutosomal recessive
PCDH126056225251280Microcephaly, seizures, spasticity, and brain calcificationAutosomal recessive
PCDH1560551410609533; 601067Deafness, autosomal recessive, type 23; Usher syndrome, type 1D/F digenicAutosomal recessive
PCK261409514261650PEPCK deficiency, mitochondrialAutosomal recessive
PCNT60592521210720Microcephalic osteodysplastic primordial dwarfism, type 2Autosomal recessive
PCSK11621505600955Obesity with impaired prohormone processingAutosomal recessive
PCYT1A1236953608940Spondylometaphyseal dysplasia with cone-rod dystrophyAutosomal recessive
PDE10A6106526616921Dyskinesia, limb and orofacial, infantile-onsetAutosomal recessive
PDE6A1800715613810Retinitis pigmentosa type 43Autosomal recessive
PDE6B1800724613801Retinitis pigmentosa type 40Autosomal recessive
PDE6C60082710613093Cone dystrophy type 4Autosomal recessive
PDE6G18007317613582Retinitis pigmentosa type 57Autosomal recessive
PDE6H60119012610024*Retinal cone dystrophy 3 and achromatopsia 6Autosomal recessive*
PDHA1300502X312170Pyruvate dehydrogenase E1-alpha deficiencyX-linked
PDHB1790603614111Pyruvate dehydrogenase E1-beta deficiencyAutosomal recessive
PDHX60876911245349Lacticacidemia due to PDX1 deficiencyAutosomal recessive
PDP16059938608782Pyruvate dehydrogenase phosphatase deficiencyAutosomal recessive
PDSS160742910614651Coenzyme Q10 deficiency, primary, type 2Autosomal recessive
PDSS26105646614652Coenzyme Q10 deficiency, primary, type 3Autosomal recessive
PDX160073313260370Pancreatic agenesis type 1Autosomal recessive
PDXK17902021618511Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy Autosomal recessive
PDZD761297110618003; 605472Deafness, autosomal recessive, type 57; Usher syndrome, type 2C, digenicAutosomal recessive; Digenic inheritance (ADGRV1 gene)
PEPD61323019170100Prolidase deficiencyAutosomal recessive
PET10061477019619055Mitochondrial complex IV deficiency, nuclear type 12Autosomal recessive
PEX16021367234580Heimler syndrome type 1Autosomal recessive
PEX106028591614870; 614871Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6BAutosomal recessive
PEX11B6038671614920?Peroxisome biogenesis disorder 14BAutosomal recessive
PEX1260175817614859Peroxisome biogenesis disorder type 3A (Zellweger)Autosomal recessive
PEX136017892614883; 614885Peroxisome biogenesis disorder, type 11A (Zellweger syndrome); Peroxisome biogenesis disorder, type 11BAutosomal recessive
PEX146017911614887Peroxisome biogenesis disorder, type 13A (Zellweger syndrome)Autosomal recessive
PEX1660336011614876; 614877Peroxisome biogenesis disorder, type 8A (Zellweger syndrome); Peroxisome biogenesis disorder, type 8BAutosomal recessive
PEX196002791614886Peroxisome biogenesis disorder, type 12A (Zellweger syndrome)Autosomal recessive
PEX21709938614866Peroxisome biogenesis disorder type 5A (Zellweger)Autosomal recessive
PEX2660866622614872Peroxisome biogenesis disorder type 7A (Zellweger)Autosomal recessive
PEX36031646614882Peroxisome biogenesis disorder, type 10A (Zellweger syndrome)Autosomal recessive
PEX560041412214110Peroxisome biogenesis disorder type 2A (Zellweger)Autosomal recessive
PEX66014986614862; 616617*; 614863Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2Autosomal recessive; Autosomal recessive*; Autosomal recessive
PEX76017576215100Rhizomelic chondrodysplasia punctata, type 1Autosomal recessive
PFKM61068112232800Glycogen storage disease, type 7Autosomal recessive
PGAM26129317261670Glycogen storage disease XAutosomal recessive
PGAP16116552615802Mental retardation, autosomal recessive 42Autosomal recessive
PGAP261518711614207Hyperphosphatasia with mental retardation syndrome 3Autosomal recessive
PGAP361180117615716Hyperphosphatasia with mental retardation syndrome 4Autosomal recessive
PGK1311800X300653Phosphoglycerate kinase 1 deficiencyX-linked
PGM11719001614921Congenital disorder of glycosylation, type 1tAutosomal recessive
PGM31721006615816Immunodeficiency, type 23Autosomal recessive
PHF8300560X300263Mental retardation syndrome, X-linked, Siderius typeX-linked
PHGDH6068791256520; 601815Neu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiencyAutosomal recessive
PHKB17249016261750Glycogen storage disease, type 9BAutosomal recessive
PHKG217247116613027Glycogen storage disease type 9cAutosomal recessive
PHOX2A60275311602078Fibrosis of extraocular muscles, congenital, 2Autosomal recessive
PHYH60202610266500Refsum diseaseAutosomal recessive
PI4KA60028622616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisAutosomal recessive
PIBF160753213617767Joubert syndrome 33Autosomal recessive
PIEZO161118416616843Lymphedema, hereditary, type 3Autosomal recessive
PIEZO261362918617146Arthrogryposis, distal, with impaired proprioception and touchAutosomal recessive
PIGC6017301617816Glycosylphosphatidylinositol biosynthesis defect 16Autosomal recessive
PIGG6169184616917Mental retardation, autosomal recessive 53Autosomal recessive
PIGL60594717280000Zunich neuroectodermal syndromeAutosomal recessive
PIGM6102731610293Glycosylphosphatidylinositol deficiencyAutosomal recessive
PIGN60609718614080Multiple congenital anomalies-hypotonia-seizures syndrome, type 1Autosomal recessive
PIGO6147309614749Hyperphosphatasia with mental retardation syndrome 2Autosomal recessive
PIGT61027220615398Multiple congenital anomalies-hypotonia-seizures syndrome 3Autosomal recessive
PIGV6102741239300Hyperphosphatasia with mental retardation syndrome 1Autosomal recessive
PIGW61027517616025Glycosylphosphatidylinositol biosynthesis defect 11Autosomal recessive
PIGY6106624616809Hyperphosphatasia with mental retardation syndrome 6Autosomal recessive
PINK16083091605909Parkinson disease, type 6, early onsetAutosomal recessive
PIP5K1C60610219611369Lethal congenital contractural syndrome, type 3Autosomal recessive
PJVK6102192DFNB59610220Deafness, autosomal recessive, type 59Autosomal recessive
PKD1L16097217617205Heterotaxy, visceral, 8, autosomalAutosomal recessive
PKHD16067026263200Polycystic kidney disease type 4Autosomal recessive
PKLR6097121266200Pyruvate kinase deficiencyAutosomal recessive
PKP16019751604536Ectodermal dysplasia/skin fragility syndromeAutosomal recessive
PLA2G660360422256600Infantile neuroaxonal dystrophy type 1Autosomal recessive
PLAA6038739617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesAutosomal recessive
PLCB160712020613722Epileptic encephalopathy, early infantile, type 12Autosomal recessive
PLCB460081020614669*Auriculocondylar syndrome, type 2Autosomal recessive*
PLCD16021423151600Nail disorder, nonsyndromic congenital, type 3 (leukonychia)Autosomal recessive
PLCE160841410610725Nephrotic syndrome, type 3Autosomal recessive
PLD16023823212093Cardiac valvular defect, developmentalAutosomal recessive
PLEC6012828226670Epidermolysis bullosa simplex with muscular dystrophyAutosomal recessive
PLEKHG56111011615376Charcot-Marie-Tooth disease, recessive intermediate, type CAutosomal recessive
PLG1733506217090Plasminogen deficiency, type IAutosomal recessive
PLK46050314616171Microcephaly and chorioretinopathy, autosomal recessive, 2Autosomal recessive
PLOD11534541225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1Autosomal recessive
PLOD26018653609220Bruck syndrome 2Autosomal recessive
PLOD36030667612394Lysyl hydroxylase 3 deficiencyAutosomal recessive
PLP1300401X312080Pelizaeus-Merzbacher diseaseX-linked
PLPBP6044368PROSC617290Epilepsy, early-onset, vitamin B6-dependentAutosomal recessive
PMM260178516212065Congenital disorder of glycosylation, type 1AAutosomal recessive
PMP2260109717145900*Dejerine-Sottas diseaseAutosomal recessive*
PMPCA6130369213200Spinocerebellar ataxia, autosomal recessive, type 2Autosomal recessive
PMPCB6031317617954Multiple mitochondrial dysfunctions syndrome 6Autosomal recessive
PNKP60561019616267; 613402Ataxia-oculomotor apraxia, type 4; Microcephaly, seizures, and developmental delayAutosomal recessive
PNP16405014613179Immunodeficiency due to purine nucleoside phosphorylase deficiencyAutosomal recessive
PNPLA16121216615024Ichthyosis, congenital, autosomal recessive, type 10Autosomal recessive
PNPLA260905911610717Neutral lipid storage disease with myopathyAutosomal recessive
PNPLA660319719215470; 275400; 612020Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome; Spastic paraplegia, type 39, autosomal recessiveAutosomal recessive
PNPO60328717610090Pyridoxamine 5'-phosphate oxidase deficiencyAutosomal recessive
PNPT16103162614932Combined oxidative phosphorylation deficiency 13Autosomal recessive
POC1A6147833614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisAutosomal recessive
POC1B61478412615973Cone-rod dystrophy 20Autosomal recessive
POLE17476212615139FILS syndromeAutosomal recessive
POLG17476315203700; 613662; 607459POLG-related disordersAutosomal recessive
POLH6039686278750Xeroderma pigmentosum, variant typeAutosomal recessive
POLR1C6100606616494; 248390Leukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3Autosomal recessive
POLR1D61371513613717*Treacher Collins syndrome, type 2Autosomal recessive*
POLR3A61425810607694Leukodystrophy, hypomyelinating, type 7Autosomal recessive
POLR3B61436612614381Leukodystrophy, hypomyelinating, type 8Autosomal recessive
POMC1768302609734Obesity, adrenal insufficiency, and red hair due to POMC deficiencyAutosomal recessive
POMGNT16068221253280; 613151; 613157Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])Autosomal recessive
POMGNT26148283614830; 618135Muscular dystrophy-dystroglycanopathy, type 8A (Walker-Warburg syndrome); Type 8C (limb-girdle muscular dystrophy, type 24 [LGMD R24])Autosomal recessive
POMK6152478615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12Autosomal recessive
POMP61338613601952Keratosis linearis with ichthyosis congenita and sclerosing keratodermaAutosomal recessive
POMT16074239236670; 613155; 609308Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])Autosomal recessive
POMT260743914613150; 613156; 613158Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])Autosomal recessive
POP16024868617396Anauxetic dysplasia, type 2Autosomal recessive
POR1240157201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesisAutosomal recessive
POU1F11731103613038*Pituitary hormone deficiency, combined, type 1 Autosomal recessive*
POU3F4300039X304400Deafness, X-linked, type 2X-linked
PPA26099884617222Sudden cardiac failure, infantileAutosomal recessive
PPIB12384115259440Osteogenesis imperfecta, type 9Autosomal recessive
PPM1K6110654615135?Maple syrup urine disease, mild variantAutosomal recessive
PPP1R15B6132571616817Microcephaly, short stature, and impaired glucose metabolism 2Autosomal recessive
PPT16007221256730Ceroid lipofuscinosis, neuronal, type 1Autosomal recessive
PQBP1300463X309500Renpenning syndromeX-linked
PRCD61059817610599Retinitis pigmentosa, type 36Autosomal recessive
PRDM126164589616488Neuropathy, hereditary sensory and autonomic, type VIIIAutosomal recessive
PRDM56141614614170Brittle cornea syndrome, type 2Autosomal recessive
PRDX11767631277400Methylmalonic aciduria and homocystinuria, cblC type, digenicAutosomal recessive, digenic inheritance (MMACHC gene)
PREPL6095572616224Myasthenic syndrome, congenital, type 22Autosomal recessive
PRF117028010603553Hemophagocytic lymphohistiocytosis, familial, type 2Autosomal recessive
PRG46042831208250Camptodactyly-arthropathy-coxa vara-pericarditis syndromeAutosomal recessive
PRICKLE160850012612437Epilepsy, progressive myoclonic, type 1BAutosomal recessive
PRKCD1769773615559Autoimmune lymphoproliferative syndrome, type 3Autosomal recessive
PRKN6025446PARK2600116Parkinson disease, type 2, juvenileAutosomal recessive
PRKRA6034242612067Dystonia, type 16Autosomal recessive
PRMT761008716617157Short stature, brachydactyly, intellectual developmental disability, and seizuresAutosomal recessive
PROC6122832612304Thrombophilia due to protein C deficiency, autosomal recessiveAutosomal recessive
PRODH60681022239500Hyperprolinemia, type 1Autosomal recessive
PROM16043654612095Retinitis pigmentosa, type 41Autosomal recessive
PROP16015385262600Pituitary hormone deficiency, combined, type 2Autosomal recessive
PROS11768803614514Thrombophilia due to protein S deficiency, autosomal recessiveAutosomal recessive
PRPH21796056608133*; 136880*Leber congenital amaurosis 18; Retinitis punctata albescensAutosomal recessive*
PRPS1311850X300661; 304500; 311070; 301835PRPS1-related disodersX-linked
PRRX11674201202650*Agnathia-otocephaly complexAutosomal recessive*
PRSS12760007614044Trypsinogen deficiencyAutosomal recessive
PRSS126067094249500Mental retardation, autosomal recessive, type 1Autosomal recessive
PRSS566138582613517Microphthalmia, isolated, type 6Autosomal recessive
PRUNE16174131PRUNE617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesAutosomal recessive
PRX60572519614895Charcot-Marie-Tooth disease, type 4FAutosomal recessive
PSAP17680110611721Combined SAP deficiencyAutosomal recessive
PSAT16109369616038Neu-Laxova syndrome, type 2Autosomal recessive
PSMB81770466256040Autoinflammation, lipodystrophy, and dermatosis syndromeAutosomal recessive
PSMC3IP60866517614324Ovarian dysgenesis 3Autosomal recessive
PSPH1724807614023Phosphoserine phosphatase deficiencyAutosomal recessive
PTF1A60719410615935Pancreatic agenesis 2Autosomal recessive
PTH16845011146200*Hypoparathyroidism, familial isolated, type 1Autosomal recessive*
PTH1R1684683215045; 600002Chondrodysplasia, Blomstrand type; Eiken syndromeAutosomal recessive
PTPN236065843618890Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticityAutosomal recessive
PTPRC1514601608971Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positiveAutosomal recessive
PTPRO60057912614196Nephrotic syndrome, type 6Autosomal recessive
PTPRQ60331712613391Deafness, autosomal recessive, type 84AAutosomal recessive
PTRH260862517616263Infantile-onset multisystem neurologic, endocrine, and pancreatic diseaseAutosomal recessive
PTS61271911261640Hyperphenylalaninemia, BH4-deficient, type AAutosomal recessive
PUS160810912600462Myopathy, lactic acidosis, and sideroblastic anemia, type 1Autosomal recessive
PXDN6051582269400Anterior segment dysgenesis, type 7, with sclerocorneaAutosomal recessive
PYCR117903517612940Cutis laxa, autosomal recessive, type 2BAutosomal recessive
PYCR26164061616420Leukodystrophy, hypomyelinating, type 10Autosomal recessive
PYGL61374114232700Glycogen storage disease, type 6Autosomal recessive
PYGM60845511232600McArdle diseaseAutosomal recessive
PYROXD161722012617258Myopathy, myofibrillar, type 8Autosomal recessive
QARS16037273QARS615760Microcephaly, progressive, seizures, and cerebral and cerebellar atrophyAutosomal recessive
QDPR6126764261630Hyperphenylalaninemia, BH4-deficient, type CAutosomal recessive
RAB1860220710614222Warburg micro syndrome, type 3Autosomal recessive
RAB236061446201000Carpenter syndromeAutosomal recessive
RAB27A60386815607624Griscelli syndrome, type 2Autosomal recessive
RAB286129944615374Cone-rod dystrophy 18Autosomal recessive
RAB33B6059504615222Smith-McCort dysplasia 2Autosomal recessive
RAB3GAP16025362600118Warburg micro syndrome, type 1Autosomal recessive
RAB3GAP26092751212720Martsolf syndromeAutosomal recessive
RAD506040405613078Nijmegen breakage syndrome-like disorderAutosomal recessive
RAD51C60277417613390Fanconi anemia, complementation group OAutosomal recessive
RAG117961511603554; 601457Omenn syndrome; Severe combined immunodeficiency, B cell-negativeAutosomal recessive
RAG217961611603554; 601457Omenn syndrome; Severe combined immunodeficiency, B cell-negativeAutosomal recessive
RAPSN60159211208150; 616326Fetal akinesia deformation sequence, type 2; Myasthenic syndrome, congenital, type 11, associated with AChR deficiencyAutosomal recessive
RARB1802203615524Microphthalmia, syndromic 12Autosomal recessive
RARS11078205RARS616140Leukodystrophy, hypomyelinating, type 9Autosomal recessive
RARS26115246611523Pontocerebellar hypoplasia, type 6Autosomal recessive
RASGRP160396215618534Immunodeficiency, type 64Autosomal recessive
RAX60188118611038Isolated microphthalmia, type 3Autosomal recessive
RBBP860412418251255; 606744Jawad syndrome; Seckel syndrome, type 2Autosomal recessive
RBCK161092420615895Polyglucosan body myopathy 1 with or without immunodeficiencyAutosomal recessive
RBM8A6053131274000Thrombocytopenia-absent radius syndromeAutosomal recessive
RBP318029010615233?Retinitis pigmentosa 66Autosomal recessive
RBP418025010615147Retinal dystrophy, iris coloboma, and comedogenic acne syndromeAutosomal recessive
RCBTB160786713617175Retinal dystrophy with or without extraocular anomaliesAutosomal recessive
RD31800401610612Leber congenital amaurosis, type 12Autosomal recessive
RDH1260883014612712Leber congenital amaurosis, type 13Autosomal recessive
RDH560161712136880*Fundus albipunctatusAutosomal recessive*
RDX17941011611022Deafness, autosomal recessive, type 24Autosomal recessive
RECQL46037808218600; 266280; 268400Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndromeAutosomal recessive
REEP660934619617304Retinitis pigmentosa 77Autosomal recessive
RELN6005147257320Lissencephaly 2 (Norman-Roberts type)Autosomal recessive
REN1798201267430Renal tubular dysgenesisAutosomal recessive
RETREG16131145FAM134B613115Neuropathy, hereditary sensory and autonomic, type 2BAutosomal recessive
RFT16119083612015Congenital disorder of glycosylation, type InAutosomal recessive
RFX56018631209920Bare lymphocyte syndrome, type 2Autosomal recessive
RFX66126596615710Mitchell-Riley syndromeAutosomal recessive
RFXANK60320019209920Bare lymphocyte syndrome, type 2, complementation group BAutosomal recessive
RFXAP60186113209920Bare lymphocyte syndrome, type 2Autosomal recessive
RGR60034210613769Retinitis pigmentosa, type 44Autosomal recessive
RHO1803803613731*; 136880*Retinitis pigmentosa, type 4; Retinitis punctata albescensAutosomal recessive*
RIN261022220613075Macs syndrome Autosomal recessive
RIPK460570621263650Popliteal pterygium syndrome, Bartsocas-Papas typeAutosomal recessive
RIPOR26114106C6orf32616515Deafness, autosomal recessive, type 104Autosomal recessive
RLBP118009015607475; 136880*Bothnia retinal dystrophy; Fundus albipunctatusAutosomal recessive; Autosomal recessive*
RMND16149176614922Combined oxidative phosphorylation deficiency 11Autosomal recessive
RMRP1576609CHH607095Anauxetic dysplasia, type 1Autosomal recessive
RNASEH16041232616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2Autosomal recessive
RNASEH2A60603419610333Aicardi-Goutieres syndrome, type 4Autosomal recessive
RNASEH2B61032613610181Aicardi-Goutieres syndrome, type 2Autosomal recessive
RNASEH2C61033011610329Aicardi-Goutieres syndrome, type 3Autosomal recessive
RNASET26129446612951Leukoencephalopathy, cystic, without megalencephalyAutosomal recessive
RNF1686126883611943RIDDLE syndromeAutosomal recessive
RNF2166099487212840Gordon Holmes syndromeAutosomal recessive
RNU4ATAC6014282210710Microcephalic osteodysplastic primordial dwarfism, type IAutosomal recessive
ROBO360863011607313Gaze palsy, familial horizontal, with progressive scoliosis, type 1Autosomal recessive
ROGDI61457416226750Kohlschutter-Tonz syndromeAutosomal recessive
ROM118072111608133Retinitis pigmentosa, type 7, digenicAutosomal recessive
ROR26023379268310Robinow syndrome, autosomal recessiveAutosomal recessive
RORC6029431616622Immunodeficiency, type 42Autosomal recessive
RP16039378180100Retinitis pigmentosa, type 1Autosomal recessive
RP2300757X312600Retinitis pigmentosa, type 2, X-linkedX-linked
RPE651800691204100; 613794RPE65-related Leberÿcongenitalÿamaurosis/early-onset severe retinal dystrophyÿAutosomal recessive
RPGR312610X300029; 304020Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1X-linked
RPGRIP160544614613826Leber congenital amaurosis, type 6Autosomal recessive
RPGRIP1L61093716611560; 611561; 619113Joubert syndrome, type 7; Meckel syndrome, type 5; COACH syndromeAutosomal recessive
RRM2B6047128612075Mitochondrial DNA depletion syndrome, type 8A (encephalomyopathic type with renal tubulopathy) and type 8B (MNGIE type)Autosomal recessive
RS1300839X312700RetinoschisisX-linked
RSPH160931421615481Ciliary dyskinesia, primary, type 24Autosomal recessive
RSPH36158766616481Ciliary dyskinesia, primary, type 32Autosomal recessive
RSPH4A6126476612649Ciliary dyskinesia, primary, type 11Autosomal recessive
RSPH96126486612650Ciliary dyskinesia, primary, type 12Autosomal recessive
RSPO461057320206800Anonychia congenitaAutosomal recessive
RSPRY161658516616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya typeAutosomal recessive
RTEL160883320615190*Dyskeratosis congenita, autosomal recessive type 5Autosomal recessive*
RTN4IP16105026616732Optic atrophy 10 with or without ataxia, mental retardation, and seizuresAutosomal recessive
RTTN61043618614833Microcephaly, short stature, and polymicrogyria with seizuresAutosomal recessive
RUSC26110539617773Mental retardation, autosomal recessive 61Autosomal recessive
RXYLT160586212TMEM5615041Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10Autosomal recessive
RYR118090119255320Minicore myopathy with external ophthalmoplegiaAutosomal recessive
S1PR260511119610419Deafness, autosomal recessive, type 68Autosomal recessive
SACS60449013270550Spastic ataxia, Charlevoix-Saguenay, typeAutosomal recessive
SAG1810312258100Oguchi disease, type 1Autosomal recessive
SAMD96104567610455Tumoral calcinosis, familial, normophosphatemicAutosomal recessive
SAMHD160675420612952Aicardi-Goutieres syndrome, type 5Autosomal recessive
SAR1B6076905246700Chylomicron retention diseaseAutosomal recessive
SARS261280419613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisAutosomal recessive
SBDS6074447260400Shwachman-Diamond syndromeAutosomal recessive
SBF160356022615284Charcot-Marie-Tooth disease, type 4B3Autosomal recessive
SBF260769711604563Charcot-Marie-Tooth disease, type 4B2Autosomal recessive
SC5D60228611SC5DL607330LathosterolosisAutosomal recessive
SCARB26022574254900Epilepsy, progressive myoclonic, type 4, with or without renal failureAutosomal recessive
SCARF261361922600920Van den Ende-Gupta syndromeAutosomal recessive
SCN1B60023519617350Epileptic encephalopathy, early infantile, type 52Autosomal recessive
SCN4A60396717614198Myasthenic syndrome, congenital, type 16Autosomal recessive
SCN9A6034152243000Indifference to pain and autosomal recessive hereditary sensory neuropathy type 2DAutosomal recessive
SCNN1A60022812264350Pseudohypoaldosteronism, type 1Autosomal recessive
SCNN1B60076016264350Pseudohypoaldosteronism, type 1Autosomal recessive
SCNN1G60076116264350Pseudohypoaldosteronism, type 1Autosomal recessive
SCO160364417619048Mitochondrial complex IV deficiency, nuclear type 4Autosomal recessive
SCO260427222604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 1Autosomal recessive
SCYL160798211616719Spinocerebellar ataxia, autosomal recessive, type 21Autosomal recessive
SDCCAG86135241615993Bardet-Biedl syndrome, type 16Autosomal recessive
SDHA6008575252011; 256000Mitochondrial respiratory chain complex II deficiency; Leigh syndromeAutosomal recessive
SDHAF161284819252011Mitochondrial complex II deficiencyAutosomal recessive
SDR9C760976912617574Ichthyosis, congenital, autosomal recessive 13Autosomal recessive
SEC23A61051114607812Craniolenticulosutural dysplasiaAutosomal recessive
SEC23B61051220224100Dyserythropoietic anemia, congenital, type 2Autosomal recessive
SEC24D6071864616294Cole-Carpenter syndrome 2Autosomal recessive
SECISBP26076939609698Thyroid hormone metabolism, abnormalAutosomal recessive
SELENON6062101SEPN1602771Muscular dystrophy, rigid spine, type 1Autosomal recessive
SEMA4A6072921610283; 610282Cone-rod dystrophy, type 10; Retinitis pigmentosa, type 35Autosomal recessive
SEPSECS6130094613811Pontocerebellar hypoplasia, type 2DAutosomal recessive
SERAC161472566147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)Autosomal recessive
SERPINA110740014613490Alpha-1 antitrypsin deficiencyAutosomal recessive
SERPINB760335718615598Palmoplantar keratoderma, Nagashima typeAutosomal recessive
SERPINB860169718617115Peeling skin syndrome 5Autosomal recessive
SERPINC11073001613118*Thrombophilia due to antithrombin III deficiencyAutosomal recessive*
SERPINE11733607613329*Plasminogen activator inhibitor-1 deficiencyAutosomal recessive*
SERPINF117286017613982Osteogenesis imperfecta, type 6Autosomal recessive
SERPINF261316817262850Alpha-2-plasmin inhibitor deficiencyAutosomal recessive
SERPING160686011106100*Angioedema, hereditary, types 1 and 2Autosomal recessive*
SERPINH160094311613848Osteogenesis imperfecta, type 10Autosomal recessive
SETX6084659606002Spinocerebellar ataxia, autosomal recessive, type 1Autosomal recessive
SFRP46065707265900Pyle diseaseAutosomal recessive
SFTPB1786402265120Surfactant metabolism dysfunction, pulmonary, type 1Autosomal recessive
SFXN461556410615578Combined oxidative phosphorylation deficiency 18Autosomal recessive
SGCA60011917608099Limb-girdle muscular dystrophy, type 3 (LGMD R3)Autosomal recessive
SGCB6009004604286Limb-girdle muscular dystrophy, type 4 (LGMD R4)Autosomal recessive
SGCD6014115601287Limb-girdle muscular dystrophy, type 6 (LGMD R6)Autosomal recessive
SGCG60889613253700Limb-girdle muscular dystrophy, type 5 (LGMD R5)Autosomal recessive
SGPL160372910617575Nephrotic syndrome, type 14Autosomal recessive
SGSH60527017252900Mucopolysaccharidosis, type 3A (Sanfilippo A)Autosomal recessive
SH2D1A300490X308240Lymphoproliferative syndrome, X-linked, type 1X-linked
SH3PXD2B6132935249420Frank-ter Haar syndromeAutosomal recessive
SH3TC26082065601596Charcot-Marie-Tooth disease, type 4CAutosomal recessive
SI6098453222900Sucrase-isomaltase deficiency, congenitalAutosomal recessive
SIL16080055248800Marinesco-Sjogren syndromeAutosomal recessive
SIX660632614212550Optic disc anomalies with retinal and/or macular dystrophyAutosomal recessive
SKIV2L6004786614602Trichohepatoenteric syndrome, type 2 (diarrhea, syndromic)Autosomal recessive
SLC10A260129513613291Bile acid malabsorption, primaryAutosomal recessive
SLC11A260052312206100Anemia, hypochromic microcytic, with iron overload 1Autosomal recessive
SLC12A160083915601678Bartter syndrome, type 1Autosomal recessive
SLC12A360096816263800Gitelman syndromeAutosomal recessive
SLC12A560672620616645Epileptic encephalopathy, early infantile, 34Autosomal recessive
SLC12A660487815218000Agenesis of the corpus callosum with peripheral neuropathyAutosomal recessive
SLC13A560830517615905Epileptic encephalopathy, early infantile, 25Autosomal recessive
SLC16A16006821616095*Monocarboxylate transporter 1 deficiencyAutosomal recessive*
SLC16A2300095X300523Allan-Herndon-Dudley syndromeX-linked
SLC17A56043226604369Salla diseaseAutosomal recessive
SLC18A360033610617239Myasthenic syndrome, congenital, 21, presynapticAutosomal recessive
SLC19A26039411249270Thiamine-responsive megaloblastic anemia syndromeAutosomal recessive
SLC19A36061522607483Thiamine metabolism dysfunction syndrome, type 2 (biotin- or thiamine-responsive encephalopathy type)Autosomal recessive
SLC1A11335509222730Dicarboxylic aminoaciduriaAutosomal recessive
SLC1A46002292616657Spastic tetraplegia, thin corpus callosum, and progressive microcephalyAutosomal recessive
SLC22A1260709611220150Hypouricemia, renalAutosomal recessive
SLC22A56033775212140Carnitine deficiency, systemic primaryAutosomal recessive
SLC24A160361715613830Night blindness, congenital stationary (complete), type 1D, autosomal recessiveAutosomal recessive
SLC24A460984014615887Amelogenesis imperfecta, type IIA5Autosomal recessive
SLC24A560980215113750Albinism, oculocutaneous, type 6Autosomal recessive
SLC25A119031522615182Combined D-2- and L-2-hydroxyglutaric aciduriaAutosomal recessive
SLC25A126036672612949Epileptic encephalopathy, early infantile, type 39Autosomal recessive
SLC25A136038597605814; 603471Citrullinemia, type 2, neonatal-onset; Citrullinemia, type 2, adult-onsetAutosomal recessive
SLC25A1560386113238970Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAutosomal recessive
SLC25A1960652117607196; 613710Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)Autosomal recessive
SLC25A206136983212138Carnitine-acylcarnitine translocase deficiencyAutosomal recessive
SLC25A2260930211609304Epileptic encephalopathy, early infantile, type 3Autosomal recessive
SLC25A266110373616794Combined oxidative phosphorylation deficiency 28Autosomal recessive
SLC25A360037012610773Mitochondrial phosphate carrier deficiencyAutosomal recessive
SLC25A386108193205950Anemia, sideroblastic, type 2, pyridoxine-refractoryAutosomal recessive
SLC25A41032204615418Mitochondrial DNA depletion syndrome, type 12B (cardiomyopathic type) ARAutosomal recessive
SLC25A466108265616505Neuropathy, hereditary motor and sensory, type VIBAutosomal recessive
SLC26A26067185600972Achondrogenesis, type 1B (diastrophic dysplasia)Autosomal recessive
SLC26A31266507214700Diarrhea 1, secretory chloride, congenitalAutosomal recessive
SLC26A46056467600791; 274600Deafness, autosomal recessive, type 4; Pendred syndromeAutosomal recessive
SLC26A56049437613865?Deafness, autosomal recessive, type 61Autosomal recessive
SLC27A46041949608649Ichthyosis prematurity syndromeAutosomal recessive
SLC29A361237310602782Histiocytosis-lymphadenopathy plus syndromeAutosomal recessive
SLC2A11381401606777*GLUT1 deficiency syndrome 1, infantile onset, severeAutosomal recessive*
SLC2A1060614520208050Arterial tortuosity syndromeAutosomal recessive
SLC2A21381603227810Fanconi-Bickel syndromeAutosomal recessive
SLC2A96061424612076*Hypouricemia, renal, type 2Autosomal recessive*
SLC30A106111461613280Hypermanganesemia with dystonia, type 1Autosomal recessive
SLC33A16036903614482Congenital cataracts, hearing loss, and neurodegenerationAutosomal recessive
SLC34A11823095616963Hypercalcemia, infantile, type 2Autosomal recessive
SLC34A26042174265100Pulmonary alveolar microlithiasisAutosomal recessive
SLC34A36098269241530Hypophosphatemic rickets with hypercalciuriaAutosomal recessive
SLC35A16056346603585Congenital disorder of glycosylation, type 2FAutosomal recessive
SLC35A36056321615553?Arthrogryposis, mental retardation, and seizuresAutosomal recessive
SLC35C160588111266265Congenital disorder of glycosylation, type 2CAutosomal recessive
SLC35D16108041269250Schneckenbecken dysplasiaAutosomal recessive
SLC37A460267111232220Glycogen storage disease, type 1BAutosomal recessive
SLC38A861558516609218Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesisAutosomal recessive
SLC39A1360873511612350Ehlers-Danlos syndrome, spondylodysplastic type, 3Autosomal recessive
SLC39A146087368617013Hypermanganesemia with dystonia 2Autosomal recessive
SLC39A46070598201100Acrodermatitis enteropathicaAutosomal recessive
SLC39A86087324616721Congenital disorder of glycosylation, type IInAutosomal recessive
SLC3A11046142220100*CystinuriaAutosomal recessive*
SLC45A16057631617532Intellectual developmental disorder with neuropsychiatric featuresAutosomal recessive
SLC45A26062025606574Albinism, oculocutaneous, type 4Autosomal recessive
SLC46A161167217229050Folate malabsorption, hereditaryAutosomal recessive
SLC4A110927017611590Distal renal tubular acidosisAutosomal recessive
SLC4A1161020620217700Corneal endothelial dystrophy, autosomal recessiveAutosomal recessive
SLC4A46033454604278Renal tubular acidosis, proximal, with ocular abnormalitiesAutosomal recessive
SLC52A26078828614707Brown-Vialetto-Van Laere syndrome, type 2Autosomal recessive
SLC52A361335020211530Brown-Vialetto-Van Laere syndrome, type 1Autosomal recessive
SLC5A118238022606824Glucose/galactose malabsorptionAutosomal recessive
SLC5A218238116233100*Renal glucosuriaAutosomal recessive*
SLC5A560184319274400Thyroid dyshormonogenesis, type 1Autosomal recessive
SLC5A76087612617143Myasthenic syndrome, congenital, type 20, presynapticAutosomal recessive
SLC6A176102991616269Mental retardation, autosomal recessive 48Autosomal recessive
SLC6A196088935234500Hartnup disorderAutosomal recessive
SLC6A31264555613135Parkinsonism-dystonia, infantileAutosomal recessive
SLC6A560415911614618*Hyperekplexia, type 3Autosomal recessive*
SLC6A8300036X300352Cerebral creatine deficiency syndrome, type 1X-linked
SLC6A96010191617301Glycine encephalopathy with normal serum glycineAutosomal recessive
SLC7A146157203615725Retinitis pigmentosa 68Autosomal recessive
SLC7A760359314222700Lysinuric protein intoleranceAutosomal recessive
SLC7A960414419220100*CystinuriaAutosomal recessive*
SLC9A31823075616868Diarrhea 8, secretory sodium, congenitalAutosomal recessive
SLCO2A16014603614441Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2Autosomal recessive
SLITRK660968113221200Deafness and myopiaAutosomal recessive
SLURP16061198248300Meleda diseaseAutosomal recessive
SLX461327816613951Fanconi anemia, complementation group PAutosomal recessive
SMARCAL16066222242900Schimke immunoosseous dysplasiaAutosomal recessive
SMARCD260173617617475Specific granule deficiency 2Autosomal recessive
SMG961317619616920Heart and brain malformation syndromeAutosomal recessive
SMN16003545253300Spinal muscular atrophyAutosomal recessive
SMOC160848814206920Microphthalmia. with limb anomaliesAutosomal recessive
SMOC26072236125400Dentin dysplasia, type 1, with microdontia and misshapen teethAutosomal recessive
SMPD160760811257200; 607616Niemann-Pick disease, type A; Niemann-Pick disease, type BAutosomal recessive
SNAP2960420222609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeAutosomal recessive
SNX106147807615085Osteopetrosis, autosomal recessive, type 8Autosomal recessive
SNX146161056616354Spinocerebellar ataxia, autosomal recessive, type 20Autosomal recessive
SOBP6136676613671Mental retardation, anterior maxillary protrusion, and strabismusAutosomal recessive
SOD114745021618598; 105400*Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclerosis, type 1Autosomal recessive; Autosomal recessive*
SOHLH16102249617690Ovarian dysgenesis 5Autosomal recessive
SOST60574017269500; 239100Sclerosteosis, type 1; Van Buchem diseaseAutosomal recessive
SOX1860161820607823Hypotrichosis-lymphedema-telangiectasia syndromeAutosomal recessive
SP1106044572235550Hepatic venoocclusive disease with immunodeficiencyAutosomal recessive
SP760663312613849Osteogenesis imperfecta, type XIIAutosomal recessive
SPAG16033958615505Ciliary dyskinesia, primary, type 28Autosomal recessive
SPARC1821205616507Osteogenesis imperfecta, type XVIIAutosomal recessive
SPART60711113SPG20275900Spactic paraplegia, type 20, autosomal recessiveAutosomal recessive
SPATA56139404616577Epilepsy, hearing loss, and mental retardation syndromeAutosomal recessive
SPATA760986814604232Leber congenital amaurosis, type 3Autosomal recessive
SPEG6159502615959Centronuclear myopathy, type 5Autosomal recessive
SPG1161084415602099Amyotrophic lateral sclerosis, type 5, juvenileAutosomal recessive
SPG2160818115248900Mast syndromeAutosomal recessive
SPG760278316607259Spastic paraplegia, type 7, autosomal recessiveAutosomal recessive
SPINK11677905608189*Tropical calcific pancreatitisAutosomal recessive*
SPINK56050105256500Netherton syndromeAutosomal recessive
SPINT260512419270420Diarrhea 3, secretory sodium, congenital, syndromicAutosomal recessive
SPR1821252612716*Dystonia, dopa-responsive, due to sepiapterin reductase deficiencyAutosomal recessive*
SPRTN6160861616200Ruijs-Aalfs syndromeAutosomal recessive
SPTA11828601266140; 270970Pyropoikilocytosis; Apherocytosis, type 3Autosomal recessive
SPTBN260498511615386Spinocerebellar ataxia, autosomal recessive, type 14Autosomal recessive
SPTBN460621419617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafnessAutosomal recessive
SQSTM16015305617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetAutosomal recessive
SRD5A2607306226460046,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias)Autosomal recessive
SRD5A36117154612379; 612713Congenital disorder of glycosylation, type 1Q; Kahrizi syndromeAutosomal recessive
ST1460679711602400Ichthyosis, congenital, autosomal recessive, type 11Autosomal recessive
ST3GAL36064941611090Mental retardation, autosomal recessive 12Autosomal recessive
ST3GAL56044022609056Salt and pepper developmental regression syndromeAutosomal recessive
STAC361552112255995Native American myopathyAutosomal recessive
STAG36084897615723Premature ovarian failure 8Autosomal recessive
STAMBP6062472614261Microcephaly-capillary malformation syndromeAutosomal recessive
STAR6006178201710Lipoid adrenal hyperplasiaAutosomal recessive
STAT16005552613796Immunodeficiency, type 31B, mycobacterial and viral infectionsAutosomal recessive
STAT260055612616636Immunodeficiency, type 44Autosomal recessive
STAT5B60426017245590Laron syndrome with immunodeficiencyAutosomal recessive
STIL1815901612703Microcephaly, type 7, primary, autosomal recessiveAutosomal recessive
STIM160592111612783Immunodeficiency, type 10Autosomal recessive
STK460496520614868T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformationsAutosomal recessive
STRA661074515601186Microphthalmia, isolated, with coloboma, type 8Autosomal recessive
STRADA60862617611087Polyhydramnios, megalencephaly, and symptomatic epilepsyAutosomal recessive
STRC60644015603720Deafness, autosomal recessive, type 16Autosomal recessive
STUB160720716615768Spinocerebellar ataxia, autosomal recessive, type 16Autosomal recessive
STX116050146603552Hemophagocytic lymphohistiocytosis, familial, type 4Autosomal recessive
STXBP260171719613101Hemophagocytic lymphohistiocytosis, familial, type 5Autosomal recessive
SUCLA260392113612073Mitochondrial DNA depletion syndrome, type 5 (encephalomyopathic with or without methylmalonic aciduria)Autosomal recessive
SUCLG16112242245400Mitochondrial DNA depletion syndrome, type 9 (encephalomyopathic, type with methylmalonic aciduria)Autosomal recessive
SUFU60703510617757Joubert syndrome, type 32Autosomal recessive
SUGCT6091877231690Glutaric aciduria, type 3Autosomal recessive
SULT2B160412519617571Ichthyosis, congenital, autosomal recessive, type 14Autosomal recessive
SUMF16079393272200Multiple sulfatase deficiencyAutosomal recessive
SUN561394220617187Spermatogenic failure, type 16Autosomal recessive
SUOX60688712272300Sulfite oxidase deficiencyAutosomal recessive
SURF11856209616684; 256000Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiencyAutosomal recessive
SYN1313440X300491Epilepsy, X-linked, with variable learning disabilities and behavior disordersX-linked
SYNE16084416610743Spinocerebellar ataxia, autosomal recessive, type 8Autosomal recessive
SYNE461553519615540Deafness, autosomal recessive, type 76Autosomal recessive
SYNJ160429721617389Epileptic encephalopathy, early infantile, 53Autosomal recessive
SYT146109491614229?Spinocerebellar ataxia, autosomal recessive, type 11Autosomal recessive
SZT26154631615476Epileptic encephalopathy, early infantile, 18Autosomal recessive
TAC316233012614839Hypogonadotropic hypogonadism, type 10, with or without anosmiaAutosomal recessive
TACO161295817619052Mitochondrial complex IV deficiency, nuclear type 8Autosomal recessive
TACR31623324614840Hypogonadotropic hypogonadism, type 11, with or without anosmiaAutosomal recessive
TACSTD21372901204870Corneal dystrophy, gelatinous drop-likeAutosomal recessive
TAF136007741617432Mental retardation, autosomal recessive 60Autosomal recessive
TAF26049128615599Mental retardation, autosomal recessive 40Autosomal recessive
TAF66029557617126Alazami-Yuan syndromeAutosomal recessive
TALDO160206311606003Transaldolase deficiencyAutosomal recessive
TANGO261683022616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegenerationAutosomal recessive
TAP11702606604571Bare lymphocyte syndrome, type 1Autosomal recessive
TAP21702616604571Bare lymphocyte syndrome, type 1, due to TAP2 deficiencyAutosomal recessive
TAPBP6019626604571Bare lymphocyte syndrome, type 1Autosomal recessive
TAPT16127584616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck typeAutosomal recessive
TAT61301816276600Tyrosinemia, type 2Autosomal recessive
TBC1D2061166320615663Warburg micro syndrome 4Autosomal recessive
TBC1D236176873617695Pontocerebellar hypoplasia, type 11Autosomal recessive
TBC1D2461357716220500; 615338; 614617DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome; Epileptic encephalopathy, early infantile, type 16; Deafness, autosomal recessive, type 86Autosomal recessive
TBC1D76126556248000Macrocephaly/megalencephaly syndrome, autosomal recessiveAutosomal recessive
TBCD60464917617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosumAutosomal recessive
TBCE6049341617207; 241410; 244460Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1Autosomal recessive
TBCK6168994616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3Autosomal recessive
TBX156041271260660Cousin syndromeAutosomal recessive
TBX196046141201400Congenital isolated adrenocorticotropic hormone deficiencyAutosomal recessive
TBXAS12741807231095Ghosal syndromeAutosomal recessive
TCAP60448817601954Limb-girdle muscular dystrophy, type 7 (LGMD R7)Autosomal recessive
TCIRG160459211259700Osteopetrosis, autosomal recessive, type 1Autosomal recessive
TCN261344122275350Transcobalamin II deficiencyAutosomal recessive
TCTN160986312614173Joubert syndrome, type 13Autosomal recessive
TCTN261384612616654; 613885Joubert syndrome, type 24; ?Meckel syndrome, type 8Autosomal recessive
TCTN361384710614815Joubert syndrome 18Autosomal recessive
TDP160719814607250?Spinocerebellar ataxia, autosomal recessive with axonal neuropathyAutosomal recessive
TDP26057646616949Spinocerebellar ataxia, autosomal recessive, type 23Autosomal recessive
TDRD76112589613887Cataract 36Autosomal recessive
TECPR261500014615031Spastic paraplegia, type 49, autosomal recessiveAutosomal recessive
TECR61005719614020Mental retardation, autosomal recessive, type 14Autosomal recessive
TECRL6172424614021Ventricular tachycardia, catecholaminergic polymorphic, 3Autosomal recessive
TECTA60257411603629Deafness, autosomal recessive, type 21Autosomal recessive
TELO261114016616954You-Hoover-Fong syndromeAutosomal recessive
TENM36100834615145Microphthalmia, isolated, with coloboma 9Autosomal recessive
TERT1872705613989Dyskeratosis congenita, autosomal recessive, type 4Autosomal recessive
TEX156057958617960Spermatogenic failure, type 25Autosomal recessive
TF1900003209300AtransferrinemiaAutosomal recessive
TFR26047207604250Hemochromatosis, type 3Autosomal recessive
TFRC1900103616740Immunodeficiency, type 46Autosomal recessive
TG1884508274700Thyroid dyshormonogenesis, type 3Autosomal recessive
TGDS61614613616145Catel-Manzke syndromeAutosomal recessive
TGM119019514242300Ichthyosis, congenital, autosomal recessive, type 1Autosomal recessive
TGM560380515609796Peeling skin syndrome, type 2Autosomal recessive
TH19129011605407Segawa syndrome, recessiveAutosomal recessive
THOC2300395X300957Mental retardation, X-linked 12X-linked
THOC661540316613680Beaulieu-Boycott-Innes syndromeAutosomal recessive
THRB1901603274300Thyroid hormone resistance, autosomal recessiveAutosomal recessive
TIMM50607381196176983-methylglutaconic aciduria, type 9Autosomal recessive
TIMMDC16155343618251Mitochondrial complex I deficiency, nuclear type 31Autosomal recessive
TJP26077099615878Cholestasis, progressive familial intrahepatic, type 4Autosomal recessive
TK218825016609560Mitochondrial DNA depletion syndrome , type 2 (myopathic type)Autosomal recessive
TKT6067813617044Short stature, developmental delay, and congenital heart defectsAutosomal recessive
TLE661239919616814Preimplantation embryonic lethalityAutosomal recessive
TMC16067069600974Deafness, autosomal recessive, type 7Autosomal recessive
TMC660582817226400Epidermodysplasia verruciformisAutosomal recessive
TMC860582917226400Epidermodysplasia verruciformisAutosomal recessive
TMCO16141231213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeAutosomal recessive
TMEM10761618317617562; 617563Meckel syndrome, type 13; Orofaciodigital syndrome, type 16Autosomal recessive
TMEM126A61298811612989Optic atrophy 7Autosomal recessive
TMEM126B61553311618250Mitochondrial complex I deficiency, nuclear type 29 Autosomal recessive
TMEM13861445911614465Joubert syndrome 16Autosomal recessive
TMEM1656147264614727Congenital disorder of glycosylation, type 2KAutosomal recessive
TMEM19961681517616829Congenital disorder of glycosylation, type 2PAutosomal recessive
TMEM21661327711608091; 603194Joubert syndrome, type 2; Meckel syndrome, type 2Autosomal recessive
TMEM23161494916614970; 615397Joubert syndrome, type 20; Meckel syndrome,type 11Autosomal recessive
TMEM2376144232614424Joubert syndrome, type 14Autosomal recessive
TMEM26061744914617478Structural heart defects and renal anomalies syndromeAutosomal recessive
TMEM676098848610688; 607361; 216360Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndromeAutosomal recessive
TMEM706124188614052Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2Autosomal recessive
TMIE6072373600971Deafness, autosomal recessive, type 6Autosomal recessive
TMPRSS1560663521226200Enterokinase deficiencyAutosomal recessive
TMPRSS360551121601072Deafness, autosomal recessive, type 8/10Autosomal recessive
TMPRSS660986222206200Iron-refractory iron deficiency anemiaAutosomal recessive
TMTC361721812617255Lissencephaly 8Autosomal recessive
TNFRSF11A60349918612301Osteopetrosis, autosomal recessive, type 7Autosomal recessive
TNFRSF11B6026438239000Paget disease of bone, type 5, juvenile-onsetAutosomal recessive
TNFRSF13B60490717240500Immunodeficiency, common variable, type 2Autosomal recessive
TNFSF1160264213259710Osteopetrosis, autosomal recessive, type 2Autosomal recessive
TNIK6100053617028Mental retardation, autosomal recessive 54Autosomal recessive
TNNT119104119605355Nemaline myopathy , type 5, Amish typeAutosomal recessive
TNXB6009856606408Ehlers-Danlos syndrome, classic-likeAutosomal recessive
TOE16139311614969Pontocerebellar hypoplasia, type 7Autosomal recessive
TOP3A60124317618097Microcephaly, growth restriction, and increased sister chromatid exchange 2Autosomal recessive
TP53RK60867920617730Galloway-Mowat syndrome 4Autosomal recessive
TPI119045012615512Hemolytic anemia due to triosephosphate isomerase deficiencyAutosomal recessive
TPK16063707614458Episodic encephalopathy due to thiamine pyrophosphokinase deficiencyAutosomal recessive
TPM31910301609284*; 255310*Nemaline myopathy, type 1; Congenital fiber-type disproportion myopathyAutosomal recessive*
TPO6067652274500Thyroid dyshormonogenesis, type 2AAutosomal recessive
TPP160799811204500; 609270 Ceroid lipofuscinosis, neuronal, type 2; Spinocerebellar ataxia, autosomal recessive, type 7Autosomal recessive
TPRN6133549613307Deafness, autosomal recessive, type 79Autosomal recessive
TRAF3IP16073802616629Senior-Loken syndrome, type 9Autosomal recessive
TRAIP6059583616777Seckel syndrome, type 9Autosomal recessive
TRAPPC116141384615356Limb-girdle muscular dystrophy, type 18 (LGMD R18)Autosomal recessive
TRAPPC126141392617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticityAutosomal recessive
TRAPPC6B61039714617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyAutosomal recessive
TRAPPC96119668613192Mental retardation, autosomal recessive, type 13Autosomal recessive
TRDN6032836615441Ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weaknessAutosomal recessive
TREM26050866221770Nasu-Hakola diseaseAutosomal recessive
TREX16066093225750Aicardi-Goutieres syndrome, type 1Autosomal recessive
TRHR1885458618573Hypothyroidism, congenital, nongoitrous, type 7Autosomal recessive
TRIM26141414615490Charcot-Marie-Tooth disease, type 2RAutosomal recessive
TRIM326022909254110Limb-girdle muscular dystrophy, type 8 (LGMD R8)Autosomal recessive
TRIM3760507317253250Mulibrey nanismAutosomal recessive
TRIOBP60976122609823Deafness, autosomal recessive, type 28Autosomal recessive
TRIP1160450514200600Achondrogenesis, type 1AAutosomal recessive
TRIP136045075617598Mosaic variegated aneuploidy syndrome 3Autosomal recessive
TRIP460450115616866Spinal muscular atrophy with congenital bone fractures 1Autosomal recessive
TRIT16178401617873Combined oxidative phosphorylation deficiency 35Autosomal recessive
TRMT10A6160134616033Microcephaly, short stature, and impaired glucose metabolism 1Autosomal recessive
TRMT10C6154233616974Combined oxidative phosphorylation deficiency 30Autosomal recessive
TRMT561102314616539Combined oxidative phosphorylation deficiency 26Autosomal recessive
TRMU61023022613070Liver failure, transient infantileAutosomal recessive
TRNT16129073616959Retinitis pigmentosa and erythrocytic microcytosisAutosomal recessive
TRPM160357615613216Night blindness, congenital stationary (complete), type 1C, autosomal recessiveAutosomal recessive
TRPM66070099602014Familial hypomagnesemia with secondary hypocalcemiaAutosomal recessive
TRPV66066807618188Hyperparathyroidism, transient neonatalAutosomal recessive
TSEN156087561617026Pontocerebellar hypoplasia, type 2FAutosomal recessive
TSEN26087533612389Pontocerebellar hypoplasia, type 2BAutosomal recessive
TSEN3460875419612390Pontocerebellar hypoplasia type 2CAutosomal recessive
TSEN5460875517277470; 225753Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4Autosomal recessive
TSFM60472312610505Combined oxidative phosphorylation deficiency, type 3Autosomal recessive
TSHB1885401275100Hypothyroidism, congenital, nongoitrous, type 4Autosomal recessive
TSHR60337214275200Hypothyroidism, congenital, nongoitrous, type 1Autosomal recessive
TTC1961381417615157Mitochondrial complex III deficiency, nuclear type 2Autosomal recessive
TTC21B6120142613819Short-rib thoracic dysplasia, type 4, with or without polydactylyAutosomal recessive
TTC376145895222470Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic)Autosomal recessive
TTC7A6093322243150Gastrointestinal defects and immunodeficiency syndromeAutosomal recessive
TTC860813214615985Bardet-Biedl syndrome, type 8Autosomal recessive
TTI26144268615541Mental retardation, autosomal recessive, type 39Autosomal recessive
TTLL561226814615860Cone-rod dystrophy 19Autosomal recessive
TTN1888402608807; 611705Limb-girdle muscular dystrophy type 10 (LGMDR10); Early-onset myopathy with fatal cardiomyopathy (Salih myopathy)Autosomal recessive
TTPA6004158277460Ataxia with isolated vitamin E deficiencyAutosomal recessive
TUBA860574222613180Cortical dysplasia, complex, with other brain malformations, type 8Autosomal recessive
TUBGCP460961015616335Microcephaly and chorioretinopathy, autosomal recessive, type 3Autosomal recessive
TUBGCP661005322251270Microcephaly and chorioretinopathy, autosomal recessive, type 1Autosomal recessive
TUFM60238916610678Combined oxidative phosphorylation deficiency 4Autosomal recessive
TULP16022806613843Leber congenital amaurosis, type 15Autosomal recessive
TUSC36013858611093Mental retardation, autosomal recessive, type 7Autosomal recessive
TWIST26075562227260Focal facial dermal dysplasia, type 3 (Setleis type)Autosomal recessive
TWNK60607510C10orf2271245; 616138Mitochondrial DNA depletion syndrome, type 7 (hepatocerebral type); Perrault syndrome type 5Autosomal recessive
TXNL4A61159518608572Burn-McKeown syndromeAutosomal recessive
TYK217694119611521Immunodeficiency, type 35Autosomal recessive
TYMP13122222603041Mitochondrial DNA depletion syndrome, type 1 (MNGIE type)Autosomal recessive
TYR60693311203100; 606952Oculocutaneous albinism (OCA) type 1A; OCA type 1BAutosomal recessive
TYROBP60414219221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, type 1 (Nasu-Hakola disease)Autosomal recessive
TYRP11155019203290Albinism, oculocutaneous, type 3Autosomal recessive
UBA56105523617132Epileptic encephalopathy, early infantile, 44Autosomal recessive
UBE2T6105381616435Fanconi anemia, complementation group TAutosomal recessive
UBE3A60162315105830Angelman syndrome Autosomal dominant
UBE3B60804712244450Kaufman oculocerebrofacial syndromeAutosomal recessive
UBR160598115243800Johanson-Blizzard syndromeAutosomal recessive
UCHL11913424615491Spastic paraplegia, type 79, autosomal recessiveAutosomal recessive
UFM161055313617899Leukodystrophy, hypomyelinating, type 14Autosomal recessive
UGT1A11917402606785; 218800Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2Autosomal recessive
UMPS6138913258900Orotic aciduriaAutosomal recessive
UNC13D60889717608898Hemophagocytic lymphohistiocytosis, familial, type 3Autosomal recessive
UNC806126362616801Hypotonia, infantile, with psychomotor retardation and characteristic facies, type 2Autosomal recessive
UNG19152512608106Immunodeficiency with hyper IgM, type 5Autosomal recessive
UPB160667322613161Beta-ureidopropionase deficiencyAutosomal recessive
UPF3B300298X300676Mental retardation, X-linked, syndromic, type 14X-linked
UQCRB1913308615158Mitochondrial complex III deficiency, nuclear, type 3Autosomal recessive
UQCRC219132916615160Mitochondrial complex III deficiency, nuclear type 5Autosomal recessive
UQCRQ6120805615159Mitochondrial complex III deficiency, nuclear, type 4Autosomal recessive
UROD6135211176100Porphyria cutanea tardaAutosomal recessive
UROS60693810263700Porphyria, congenital erythropoieticAutosomal recessive
USB161327616604173Poikiloderma with neutropeniaAutosomal recessive
USH1C60524211276904; 602092Usher syndrome, type 1C; Deafness, autosomal recessive, type 18AAutosomal recessive
USH1G60769617606943Usher syndrome, type 1GAutosomal recessive
USH2A6084001276901Usher syndrome, type 2AAutosomal recessive
USP1860705722617397Pseudo-TORCH syndrome 2Autosomal recessive
UVSSA6146324614640UV-sensitive syndrome, type 3Autosomal recessive
VAC1460463216617054Striatonigral degeneration, childhood-onsetAutosomal recessive
VARS11921506VARS617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophyAutosomal recessive
VARS26128026615917Combined oxidative phosphorylation deficiency 20Autosomal recessive
VDR60176912277440Rickets, vitamin D-resistant, type 2AAutosomal recessive
VIPAS3961340114VIPAR613404Arthrogryposis, renal dysfunction and cholestasis, type 2Autosomal recessive
VKORC160854716607473Vitamin K-dependent clotting factors, combined deficiency of, type 2Autosomal recessive
VLDLR1929779224050Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, type 1Autosomal recessive
VPS13A6059789200150ChoreoacanthocytosisAutosomal recessive
VPS13B6078178216550Cohen syndromeAutosomal recessive
VPS13C60887915616840Parkinson disease 23, autosomal recessive, early onsetAutosomal recessive
VPS33B60855215208085Arthrogryposis, renal dysfunction and cholestasis, type 1Autosomal recessive
VPS37A6099278614898Spastic paraplegia, type 53, autosomal recessiveAutosomal recessive
VPS456100351615285Neutropenia, severe congenital, type 5Autosomal recessive
VPS5361585017615851Pontocerebellar hypoplasia, type 2EAutosomal recessive
VRK160216814607596Pontocerebellar hypoplasia, type 1AAutosomal recessive
VSX214299314610092; 610093Microphthalmia with coloboma 3; Isolated microphthalmia 2Autosomal recessive
VWF61316012277480von Willibrand disease, type 3Autosomal recessive
WARS26047331617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresAutosomal recessive
WAS300392X301000; 313900Wiskott-Aldrich syndrome; Thrombocytopenia, X-linkedX-linked
WASHC461574812KIAA1033615817?Mental retardation, autosomal recessive, type 43Autosomal recessive
WASHC56106578KIAA0196220210Ritscher-Schinzel syndrome, type 1Autosomal recessive
WDR196081514614377; 616307Nephronophthisis, type 13; Senior-Loken syndrome, type 8Autosomal recessive
WDR356136022613610Cranioectodermal dysplasia 2Autosomal recessive
WDR45B60922617617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizuresAutosomal recessive
WDR6261358319604317Microcephaly, type 2, primary, autosomal recessive, with or without cortical malformationsAutosomal recessive
WDR7261321415613211Amelogenesis imperfecta, type 2A3 (hypomaturation type)Autosomal recessive
WDR7361614415251300Galloway-Mowat syndrome 1Autosomal recessive
WDR8161421817610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome, type 2Autosomal recessive
WEE26140847617996Oocyte maturation defect 5Autosomal recessive
WFS16062014222300Wolfram syndrome, type 1Autosomal recessive
WHRN6079289DFNB31611383; 607084Usher syndrome, type 2D; Deafness, autosomal recessive, type 31Autosomal recessive
WIPF16023572614493?Wiskott-Aldrich syndrome 2Autosomal recessive
WNK160523212201300Neuropathy, hereditary sensory and autonomic, type 2Autosomal recessive
WNT116482012615220Osteogenesis imperfecta, type XVAutosomal recessive
WNT10A6062682257980Odontoonychodermal dysplasiaAutosomal recessive
WNT10B60190612225300Split-hand/foot malformation, type 6Autosomal recessive
WNT316533017273395?Tetra-amelia syndromeAutosomal recessive
WNT7A6015703228930Fuhrmann syndromeAutosomal recessive
WRAP5361266117613988Dyskeratosis congenita, autosomal recessive, type 3Autosomal recessive
WRN6046118277700Werner syndromeAutosomal recessive
WWOX60513116616211; 614322Epileptic encephalopathy, early infantile, type 28; Spinocerebellar ataxia, autosomal recessive, type 12Autosomal recessive
XDH6076332278300Xanthinuria, type 1Autosomal recessive
XPA6111539278700Xeroderma pigmentosum, group AAutosomal recessive
XPC6132083278720Xeroderma pigmentosum, group CAutosomal recessive
XPNPEP361355322613159Nephronophthisis-like nephropathy, type 1Autosomal recessive
XRCC41943635616541Short stature, microcephaly, and endocrine dysfunctionAutosomal recessive
XYLT160812416615777Desbuquois dysplasia, type 2Autosomal recessive
XYLT260812517605822Spondyloocular syndromeAutosomal recessive
YARS261095712613561Myopathy, lactic acidosis, and sideroblastic anemia, type 2Autosomal recessive
YY1AP16078601602531Grange syndromeAutosomal recessive
ZAP701769472617006; 269840Autoimmune disease, multisystem, infantile-onset, type 2; Immunodeficiency, type 48Autosomal recessive
ZBTB1617679711612447Skeletal defects, genital hypoplasia, and mental retardationAutosomal recessive
ZBTB246140646614069Immunodeficiency-centromeric instability-facial anomalies syndrome, type 2Autosomal recessive
ZC3H1461327914617125Mental retardation, autosomal recessive, type 56Autosomal recessive
ZDHHC9300646X300799Mental retardation, X-linked syndromic, Raymond typeX-linked
ZFYVE2661201214270700Spastic paraplegia, type 15, autosomal recessiveAutosomal recessive
ZMPSTE246064801608612Mandibuloacral dysplasia with, type B lipodystrophyAutosomal recessive
ZMYND106070703615444Ciliary dyskinesia, primary, type 22Autosomal recessive
ZNF40861645411616469Retinitis pigmentosa, type 72Autosomal recessive
ZNF42360455716614844Joubert syndrome, type 19Autosomal recessive
ZNF46961207816229200Brittle cornea syndrome, type 1Autosomal recessive
ZNF711314990X300803Mental retardation, X-linked, type 97X-linked
ZNHIT360450017260565PEHO syndromeAutosomal recessive
ZP119500011615774Oocyte maturation defect, type 1Autosomal recessive
  • CGT Plus v3.3.5
  • Historic Versions
chromOMIM (gene)genepreviousOMIM (phen)disease name (phenotype)inheritance
12605378AAAS231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
2607800ABCA12601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
1601691ABCA4248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
2603201ABCB11605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
11600509ABCC8256450*; 606176*Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
X300371ABCD1300100AdrenoleukodystrophyX-linked
14603214ABCD4614857Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
11604773ACAD8611283Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
3611103ACAD9611126Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
12606885ACADS201470Short-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
10600301ACADSB610006Short/branched-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
17609575ACADVL201475Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyAutosomal recessive
11607809ACAT1203750Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)Autosomal recessive
17609751ACOX1264470Peroxisomal acyl-CoA oxidase deficiencyAutosomal recessive
16614245ACSF3614265Combined malonic and methylmalonic aciduriaAutosomal recessive
20608958ADA102700Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA)Autosomal recessive
5604539ADAMTS2225410Ehlers-Danlos syndrome, dermatosparaxis typeAutosomal recessive
16604110ADGRG1GPR56606854Polymicrogyria, bilateral frontoparietalAutosomal recessive
5602851ADGRV1GPR98605472Usher syndrome, type 2CAutosomal recessive, digenic inheritance (PDZD7 gene)
10102750ADK614300Hypermethioninemia due to adenosine kinase deficiencyAutosomal recessive
4613228AGA208400Aspartylglucosaminuria (glycosylasparaginase deficiency)Autosomal recessive
1610860AGL232400Glycogen storage disease, type 3Autosomal recessive
2603051AGPS600121Rhizomelic chondrodysplasia punctata, type 3Autosomal recessive
2604285AGXT259900Hyperoxaluria, primary, type 1Autosomal recessive
20180960AHCY613752Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolaseAutosomal recessive
6608894AHI1608629Joubert syndrome, type 3Autosomal recessive
17604392AIPL1604393Leber congenital amaurosis, type 4Autosomal recessive
21607358AIRE240300*Autoimmune polyendocrinopathy syndrome, type 1Autosomal recessive*
17609523ALDH3A2270200Sjogren-Larsson syndromeAutosomal recessive
1606811ALDH4A1239510Hyperprolinemia, type 2Autosomal recessive
9612724ALDOB229600Fructose intolerance, hereditaryAutosomal recessive
16605907ALG1608540Congenital disorder of glycosylation, type 1KAutosomal recessive
1604566ALG6603147Congenital disorder of glycosylation, type 1CAutosomal recessive
2606844ALMS1203800Alström syndromeAutosomal recessive
1171760ALPL241500; 241510Hypophosphatasia, infantile/childhoodAutosomal recessive
3238310AMT605899Glycine encephalopathyAutosomal recessive
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
12107777AQP2125800*Diabetes insipidus, nephrogenic, type 2Autosomal recessive*
X313700AR300068Androgen insensitivity syndrome, completeX-linked
6608313ARG1207800Argininemia (arginase deficiency)Autosomal recessive
3608922ARL13B612291Joubert syndrome type 8Autosomal recessive
22607574ARSA250100Metachromatic leukodystrophyAutosomal recessive
5611542ARSB253200Mucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)Autosomal recessive
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
7608310ASL207900Argininosuccinic aciduriaAutosomal recessive
7108370ASNS615574Asparagine synthetase deficiencyAutosomal recessive
17608034ASPA271900Canavan diseaseAutosomal recessive
9603470ASS1215700Citrullinemia, type 1Autosomal recessive
11607585ATM208900Ataxia-telangiectasiaAutosomal recessive
2192132ATP6V1B1267300Renal tubular acidosis with deafnessAutosomal recessive
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
13606882ATP7B277900Wilson diseaseAutosomal recessive
18602397ATP8B1211600; 243300Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1Autosomal recessive
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
9600529AUH2509503-methylglutaconic aciduria, type 1Autosomal recessive
9137060B4GALT1607091Congenital disorder of glycosylation, type 2DAutosomal recessive
11209901BBS1209900Bardet-Biedl syndrome, type 1Autosomal recessive
12610148BBS10615987Bardet-Biedl syndrome, type 10Autosomal recessive
4610683BBS12615989Bardet-Biedl syndrome, type 12Autosomal recessive
16606151BBS2615981Bardet-Biedl syndrome, type 2Autosomal recessive
3177400BCHE617936Butyrylcholinesterase deficiencyAutosomal recessive
19608348BCKDHA248600Maple syrup urine disease, type 1AAutosomal recessive
6248611BCKDHB248600Maple syrup urine disease, type 1BAutosomal recessive
2603647BCS1L256000BCS1L-related disorders, including Leigh syndromeAutosomal recessive
15604610BLM210900Bloom syndromeAutosomal recessive
X300553BRWD3300659Mental retardation, X-linked, type 93X-linked
1606412BSND602522Bartter syndrome, type 4AAutosomal recessive
3609019BTD253260Biotinidase deficiencyAutosomal recessive
X300300BTK300755Agammaglobulinemia X-linked, type 1X-linked
8611492CA2259730Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)Autosomal recessive
15114240CAPN3253600Limb-girdle muscular dystrophy, type 1 (LGMD R1)Autosomal recessive
1114251CASQ2611938Ventricular tachycardia, catecholaminergic polymorphic, type 2Autosomal recessive
21613381CBS236200Homocystinuria due to cystathionine beta-synthaseAutosomal recessive
6603400CCN6WISP3208230Arthropathy, progressive pseudorheumatoid, of childhoodAutosomal recessive
X300386CD40LG308230Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
10605516CDH23601386; 601067Deafness, autosomal recessive, type 12; Usher syndrome, type 1DAutosomal recessive
12610142CEP290611134; 610188; 611755Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10Autosomal recessive
2608381CERKL608380Retinitis pigmentosa, type 26Autosomal recessive
7602421CFTR219700Cystic fibrosisAutosomal recessive
10118490CHAT254210Myasthenic syndrome, congenital, type 6, presynapticAutosomal recessive
X300390CHM303100ChoroideremiaX-linked
17100725CHRNE616324; 608931Myasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiencyAutosomal recessive
2100730CHRNG265000; 253290Multiple pterygium syndrome (MPS), Escobar type; MPS, lethal typeAutosomal recessive
16605294CHST6217800Macular corneal dystrophyAutosomal recessive
16600005CIITA209920Bare lymphocyte syndrome, type 2, complementation group AAutosomal recessive
7118425CLCN1255700Myotonia congenita, recessiveAutosomal recessive
16607042CLN3204200Ceroid lipofuscinosis, neuronal, type 3Autosomal recessive
13608102CLN5256731Ceroid lipofuscinosis, neuronal, type 5Autosomal recessive
15606725CLN6601780Ceroid lipofuscinosis, neuronal, type 6Autosomal recessive
8607837CLN8600143Ceroid lipofuscinosis, neuronal, type 8Autosomal recessive
3606397CLRN1276902Usher syndrome, type 3AAutosomal recessive
4123825CNGA1613756Retinitis pigmentosa type 49Autosomal recessive
16600724CNGB1613767Retinitis pigmentosa type 45Autosomal recessive
8605080CNGB3262300Achromatopsia, type 3Autosomal recessive
9608461COL27A1615155Steel syndromeAutosomal recessive
2120070COL4A3203780Alport syndrome, autosomal recessive, type 2Autosomal recessive
2120131COL4A4203780Alport syndrome, autosomal recessive, type 2Autosomal recessive
X303630COL4A5301050Alport syndrome, X-linkedX-linked
3120120COL7A1226600; 604129*; 131850*Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibialAutosomal recessive; Autosomal recessive*; Autosomal recessive*
3603033COLQ603034Myasthenic syndrome, congenital, type 5Autosomal recessive
10603646COX15615119; 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiencyAutosomal recessive
2608307CPS1237300Carbamoylphosphate synthetase 1 deficiencyAutosomal recessive
11600528CPT1A255120Carnitine palmitoyltransferase type 1A deficiency, hepaticAutosomal recessive
1600650CPT2608836; 600649Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantileAutosomal recessive
1604210CRB1600105; 613835Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8Autosomal recessive
3605497CRTAP610682Osteogenesis imperfecta, type 7Autosomal recessive
1607657CTH219500CystathioninuriaAutosomal recessive
17606272CTNS219800Nephropathic cystinosisAutosomal recessive
20613111CTSA256540GalactosialidosisAutosomal recessive
11602365CTSC245010; 245000Haim-Munk syndrome; Papillon-Lefevre syndromeAutosomal recessive
11116840CTSD610127Ceroid lipofuscinosis, neuronal, type 10Autosomal recessive
1601105CTSK265800PycnodysostosisAutosomal recessive
X300304CUL4B300354Mental retardation, X-linked, syndromic, type 15 (Cabezas type)X-linked
16608508CYBA233690Chronic granulomatous disease, type 4Autosomal recessive
X300481CYBB306400Chronic granulomatous disease, X-linkedX-linked
8610613CYP11B1202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiencyAutosomal recessive
8124080CYP11B2203400Hypoaldosteronism, congenital, due to CMO I deficiencyAutosomal recessive
10609300CYP17A120211017 alpha(α)-hydroxylase/17,20-lyase deficiencyAutosomal recessive
15107910CYP19A1613546Aromatase deficiencyAutosomal recessive
2601771CYP1B1231300Glaucoma, primary congenital, type 3AAutosomal recessive
6613815CYP21A2201910Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAutosomal recessive
2606530CYP27A1213700Cerebrotendinous xanthomatosisAutosomal recessive
12609506CYP27B1264700Vitamin D-dependent rickets, type 1Autosomal recessive
1248610DBT248600Maple syrup urine disease, type 2Autosomal recessive
10605988DCLRE1C603554; 602450Omenn syndrome; Severe combined immunodeficiency, Athabascan typeAutosomal recessive
X300121DCX300067Lissencephaly, X-linked, type 1X-linked
11600811DDB2278740Xeroderma pigmentosum, complementation group EAutosomal recessive
11602858DHCR7270400Smith-Lemli-Opitz syndromeAutosomal recessive
1608172DHDDS613861Retinitis pigmentosa, type 59Autosomal recessive
X300126DKC1305000Dyskeratosis congenita, X-linkedX-linked
7238331DLD246900Dihydrolipoamide dehydrogenase deficiencyAutosomal recessive
X300189DLG3300850Mental retardation, X-linked, type 90X-linked
X300377DMD310200; 300376Duchenne/Becker muscular dystrophyX-linked
5603335DNAH5608644Ciliary dyskinesia, primary, type 3, with or without situs inversusAutosomal recessive
9604366DNAI1244400Ciliary dyskinesia, primary, type 1, with or without situs inversusAutosomal recessive
17605483DNAI2612444Ciliary dyskinesia, primary, type 9, with or without situs inversusAutosomal recessive
10606060DNAJC12617384Hyperphenylalaninemia, mild, non-BH4-deficientAutosomal recessive
4610285DOK7618389; 254300Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10Autosomal recessive
9610746DOLK610768Congenital disorder of glycosylation, type 1MAutosomal recessive
11191350DPAGT1608093; 614750Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13Autosomal recessive
20603503DPM1608799Congenital disorder of glycosylation, type 1EAutosomal recessive
1612779DPYD274270Dihydropyrimidine dehydrogenase deficiencyAutosomal recessive
15606759DUOX2607200Thyroid dyshormonogenesis, type 6Autosomal recessive
15612772DUOXA2274900Thyroid dyshormonogenesis, type 5Autosomal recessive
2603009DYSF254130; 253601Miyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)Autosomal recessive
X300451EDA305100Ectodermal dysplasia, type 1, hypohidrotic, X-linkedX-linked
2604095EDAR224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth typeAutosomal recessive
2604032EIF2AK3226980Wolcott-Rallison syndromeAutosomal recessive
3603945EIF2B5603896Leukoencephalopathy with vanishing white matter (VWM)Autosomal recessive
9603722ELP1IKBKAP223900Familial dysautonomiaAutosomal recessive
X300384EMD310300Emery-Dreifuss muscular dystrophy, type 1, X-linkedX-linked
19126340ERCC2601675Trichothiodystrophy, type 1Autosomal recessive
2133510ERCC3616390Trichothiodystrophy, type 2Autosomal recessive
13133530ERCC5616570Cerebrooculofacioskeletal syndrome, type 3Autosomal recessive
10609413ERCC6133540; 214150Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1Autosomal recessive
5609412ERCC8216400Cockayne syndrome, type AAutosomal recessive
8609353ESCO2268300Roberts syndromeAutosomal recessive
15608053ETFA231680Glutaric acidemia, type 2AAutosomal recessive
19130410ETFB231680Glutaric acidemia, type 2BAutosomal recessive
4231675ETFDH231680Glutaric acidemia, type 2CAutosomal recessive
19608451ETHE1602473Ethylmalonic encephalopathyAutosomal recessive
4604831EVC225500Ellis-van Creveld syndromeAutosomal recessive
4607261EVC2225500Ellis-van Creveld syndromeAutosomal recessive
9606489EXOSC3614678Pontocerebellar hypoplasia, type 1BAutosomal recessive
6612424EYS602772Retinitis pigmentosa, type 25Autosomal recessive
4264900F11612416*Factor XI deficiencyAutosomal recessive*
11176930F2613679Prothrombin deficiencyAutosomal recessive
1612309F5227400Factor V deficiencyAutosomal recessive
X300841F8306700Hemophilia AX-linked
X300746F9306900Hemophilia BX-linked
15613871FAH276700Tyrosinemia, type 1Autosomal recessive
2613596FAM161A606068Retinitis pigmentosa, type 28Autosomal recessive
7611061FAM20C259775Raine syndromeAutosomal recessive
16607139FANCA227650Fanconi anemia, complementation group AAutosomal recessive
9613899FANCC227645Fanconi anemia, complementation group CAutosomal recessive
9602956FANCG614082Fanconi anemia, complementation group GAutosomal recessive
X300546FGD1305400Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16X-linked
1136850FH606812Fumarase deficiencyAutosomal recessive
19606596FKRP613153; 606612; 607155Muscular dystrophy-dystroglycanopathy, type 5A (Walker-Warburg syndrome); Type 5B; Type 5C (limb-girdle muscular dystrophy, type 9 [LGMDR9])Autosomal recessive
9607440FKTN253800; 613152; 611588Muscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])Autosomal recessive
X309550FMR1300624Fragile X syndromeX-linked
11613622FOXRED1618241Mitochondrial complex I deficiency, nuclear type 19Autosomal recessive
4607830FRAS1219000Fraser syndrome, type 1Autosomal recessive
21606806FTCD229100Glutamate formiminotransferase deficiencyAutosomal recessive
X300499FTSJ1309549Mental retardation, X-linked 44X-linked
1612280FUCA1230000FucosidosisAutosomal recessive
17613742G6PC232200Glycogen storage disease, type 1AAutosomal recessive
17611045G6PC3612541Dursun syndromeAutosomal recessive
X305900G6PD300908Hemolytic anemia, G6PD deficient (favism)X-linked
17606800GAA232300Glycogen storage disease, type 2Autosomal recessive
14606890GALC245200Krabbe diseaseAutosomal recessive
1606953GALE230350Galactose epimerase deficiencyAutosomal recessive
17604313GALK1230200Galactokinase deficiency with cataractsAutosomal recessive
16612222GALNS253000Mucopolysaccharidosis, type 4AAutosomal recessive
9606999GALT230400GalactosemiaAutosomal recessive
19601240GAMT612736Cerebral creatine deficiency syndrome, type 2Autosomal recessive
1606463GBA230800Gaucher diseaseAutosomal recessive
3607839GBE1232500Glycogen storage disease, type 4Autosomal recessive
19608801GCDH231670Glutaricaciduria, type 1Autosomal recessive
14600225GCH1233910Hyperphenylalaninemia, BH4-deficient, type BAutosomal recessive
16238330GCSH605899?Glycine encephalopathyAutosomal recessive
8606598GDAP1608340Charcot-Marie-Tooth disease, recessive intermediate, type AAutosomal recessive
20601146GDF5200700Chondrodysplasia, Grebe typeAutosomal recessive
3606639GFM1609060Combined oxidative phosphorylation deficiency, type 1Autosomal recessive
7139191GHRHR612781Growth hormone deficiency, isolated, type 1BAutosomal recessive
X304040GJB1302800Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1X-linked
13121011GJB2220290Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB6 gene)
13604418GJB6612645; 220290Deafness, autosomal recessive, type 1B; Deafness, digenic GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB2 gene)
X300644GLA301500Fabry diseaseX-linked
3611458GLB1230500, 230600, 230650; 253010GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)Autosomal recessive
9238300GLDC605899Glycine encephalopathyAutosomal recessive
9603371GLE1253310; 611890Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell diseaseAutosomal recessive
9603824GNE605820Inclusion body myopathy, type 2 (Nonaka myopathy)Autosomal recessive
6606628GNMT606664Glycine N-methyltransferase deficiencyAutosomal recessive
12607840GNPTAB252500; 252600Mucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/betaAutosomal recessive
16607838GNPTG252605Mucolipidosis III gammaAutosomal recessive
4138850GNRHR146110Hypogonadotropic hypogonadism, type 7, without anosmiaAutosomal recessive
12607664GNS252940Mucopolysaccharidosis, type 3D (Sanfilippo syndrome D)Autosomal recessive
17606672GP1BA231200Bernard-Soulier syndrome, type A1Autosomal recessive
22138720GP1BB231200Bernard-Soulier syndrome, type BAutosomal recessive
3173515GP9231200Bernard-Soulier syndrome, type CAutosomal recessive
X300808GPR143300500Ocular albinism, type 1 (Nettleship-Falls type)X-linked
9604296GRHPR260000Hyperoxaluria, primary, type 2Autosomal recessive
20601002GSS266130Glutathione synthetase deficiencyAutosomal recessive
17600179GUCY2D204000Leber congenital amaurosis, type 1Autosomal recessive
7611499GUSB253220Mucopolysaccharidosis, type 7Autosomal recessive
4601609HADH2315303-hydroxyacyl-CoA dehydrogenase deficiencyAutosomal recessive
2600890HADHA609016; 609015Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiencyAutosomal recessive
2143450HADHB609015Mitochondrial trifunctional protein deficiencyAutosomal recessive
1605998HAX1610738Neutropenia, severe congenital, type 3, autosomal recessiveAutosomal recessive
16141800HBA1604131Thalassemia, alpha-Autosomal recessive
16141850HBA2604131Thalassemia, alpha-Autosomal recessive
11141900HBB603903HBB-related hemoglobinopathyAutosomal recessive
X300019HCFC1309541Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )X-linked
15606869HEXA272800Tay-Sachs diseaseAutosomal recessive
5606873HEXB268800Sandhoff disease, infantile, juvenile, and adult formsAutosomal recessive
3607474HGD203500AlkaptonuriaAutosomal recessive
8610453HGSNAT252930Mucopolysaccharidosis type 3C (Sanfilippo syndrome C)Autosomal recessive
1608374HJVHFE2602390Hemochromatosis, type 2AAutosomal recessive
21609018HLCS253270Holocarboxylase synthetase deficiencyAutosomal recessive
1613898HMGCL246450HMG-CoA lyase deficiencyAutosomal recessive
22141250HMOX1614034Heme oxygenase-1 deficiencyAutosomal recessive
10613597HOGA1613616Hyperoxaluria, primary, type 3Autosomal recessive
12609695HPD276710Tyrosinemia, type 3Autosomal recessive
X308000HPRT1300322Lesch-Nyhan syndromeX-linked
10604982HPS1203300Hermansky-Pudlak syndrome, type 1Autosomal recessive
3606118HPS3614072Hermansky-Pudlak syndrome, type 3Autosomal recessive
X300256HSD17B10300438HSD10 mitochondrial diseaseX-linked
9605573HSD17B326430046,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyAutosomal recessive
5601860HSD17B4261515D-bifunctional protein deficiencyAutosomal recessive
1613890HSD3B2201810Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiencyAutosomal recessive
1142461HSPG2224410Dyssegmental dysplasia, Silverman-Handmaker typeAutosomal recessive
3607071HYAL1601492?Mucopolysaccharidosis, type 9Autosomal recessive
11610693HYLS1236680Hydrolethalus syndromeAutosomal recessive
20604526IDH3B612572Retinitis pigmentosa, type 46Autosomal recessive
X300823IDS309900Mucopolysaccharidosis, type 2X-linked
4252800IDUA607014; 607015; 607016Mucopolysaccharidosis type 1Autosomal recessive
11600502IGHMBP2616155Charcot-Marie-Tooth disease, axonal, type 2SAutosomal recessive
X300206IL1RAPL1300143Mental retardation, X-linked, type 21/34X-linked
X308380IL2RG300400Severe combined immunodeficiency, X-linkedX-linked
15607036IVD243500Isovaleric acidemiaAutosomal recessive
6612025IYD274800Thyroid dyshormonogenesis, type 4Autosomal recessive
19600173JAK3600802Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive typeAutosomal recessive
11600937KCNJ11601820; 606176*Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive; Autosomal recessive*
X314690KDM5C300534Mental retardation, X-linked, syndromic, Claes-Jensen typeX-linked
X308840L1CAM307000; 303350; 304100L1 SyndromeX-linked
6156225LAMA2607855; 618138LAMA2-related muscular dystrophyAutosomal recessive
18600805LAMA3226700; 226650Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessive
1150310LAMB3226700; 226650Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessive
1150292LAMC2226700; 226650Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessive
22603590LARGE1LARGE613154; 608840Muscular dystrophy-dystroglycanopathy, type 6A and 6BAutosomal recessive
6611408LCA5604537Leber congenital amaurosis, type 5Autosomal recessive
2152790LHCGR238320Leydig cell hypoplasiaAutosomal recessive
9600577LHX3221750Pituitary hormone deficiency, combined, type 3Autosomal recessive
5151443LIFR601559Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndromeAutosomal recessive
10613497LIPA278000Lysosomal acid lipase deficiencyAutosomal recessive
3607365LIPH604379Hypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosisAutosomal recessive
6612625LMBRD1277380Methylmalonic aciduria and homocystinuria, cblF typeAutosomal recessive
18613072LOXHD1613079Deafness, autosomal recessive, type 77Autosomal recessive
8609708LPL238600Lipoprotein lipase deficiencyAutosomal recessive
2607544LRPPRC220111Leigh syndrome, French-Canadian typeAutosomal recessive
1606897LYST214500Chediak-Higashi syndromeAutosomal recessive
19609458MAN2B1248500Alpha-mannosidosisAutosomal recessive
4609489MANBA248510Mannosidosis, betaAutosomal recessive
10610550MAT1A250850Methionine adenosyltransferase deficiency, autosomal recessiveAutosomal recessive
3609010MCCC12102003-Methylcrotonyl-CoA carboxylase deficiency, type 1Autosomal recessive
5609014MCCC22102103-Methylcrotonyl-CoA carboxylase deficiency, type 2Autosomal recessive
2608419MCEE251120Methylmalonyl-CoA epimerase deficiencyAutosomal recessive
19605248MCOLN1252650Mucolipidosis type 4Autosomal recessive
X300005MECP2300673; 312750Encephalopathy, neonatal severe; Rett syndromeX-linked
11603810MED17613668Microcephaly, postnatal progressive, with seizures and brain atrophyAutosomal recessive
16608107MEFV249100Familial Mediterranean feverAutosomal recessive
15605195MESP2608681Spondylocostal dysostosis, type 2, autosomal recessiveAutosomal recessive
4611124MFSD8610951Ceroid lipofuscinosis, neuronal, type 7Autosomal recessive
17609883MKS1615990; 249000; 617121Bardet-Biedl syndrome type 13; Meckel syndrome, type 1; Joubert syndrome, type 28Autosomal recessive
22605908MLC1604004Megalencephalic leukoencephalopathy with subcortical cystsAutosomal recessive
16606761MLYCD248360Malonyl-CoA decarboxylase deficiencyAutosomal recessive
4607481MMAA251100Methylmalonic aciduria, vitamin B12-responsiveAutosomal recessive
12607568MMAB251110Methylmalonic aciduria, vitamin B12-responsive, type cblBAutosomal recessive
1609831MMACHC277400Methylmalonic aciduria and homocystinuria, cblC typeAutosomal recessive, digenic inheritance (PRDX1 gene)
2611935MMADHC277410Homocystinuria, cblD type, variant 1Autosomal recessive
6609058MMUTMUT251000Methylmalonic aciduria, mut(0) typeAutosomal recessive
2601336MOGS606056Congenital disorder of glycosylation, type 2BAutosomal recessive
15154550MPI602579Congenital disorder of glycosylation, type 1BAutosomal recessive
1159530MPL604498Thrombocytopenia, congenital amegakaryocyticAutosomal recessive
2137960MPV17256810; 618400Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EEAutosomal recessive
1607093MTHFR236250Homocystinuria due to MTHFR deficiencyAutosomal recessive
X300415MTM1310400Myotubular myopathy, X-linkedX-linked
11603557MTMR2601382Charcot-Marie-Tooth disease, type 4B1Autosomal recessive
1156570MTR250940Homocystinuria-megaloblastic anemia, cblG complementation typeAutosomal recessive
5602568MTRR236270Homocystinuria-megaloblastic anemia, cbl E typeAutosomal recessive
4157147MTTP200100AbetalipoproteinemiaAutosomal recessive
12251170MVK610377Mevalonic aciduriaAutosomal recessive
17602666MYO15A600316Deafness, autosomal recessive, type 3Autosomal recessive
11276903MYO7A276900; 600060Usher syndrome, type 1B; Deafness, autosomal recessive, type 2Autosomal recessive
2615787NADK26160342,4-dienoyl-CoA reductase deficiencyAutosomal recessive
17609701NAGLU252920Mucopolysaccharidosis, type 3B (Sanfilippo B)Autosomal recessive
17608300NAGS237310N-acetylglutamate synthase deficiencyAutosomal recessive
8602667NBN251260Nijmegen breakage syndromeAutosomal recessive
7608512NCF1233700Chronic granulomatous disease, type 1Autosomal recessive
1608515NCF2233710Chronic granulomatous disease, type 2Autosomal recessive
X300658NDP310600Norrie diseaseX-linked
8605262NDRG1601455Charcot-Marie-Tooth disease, type 4DAutosomal recessive
5609653NDUFAF2618233Mitochondrial complex I deficiency, nuclear type 10Autosomal recessive
20612360NDUFAF5618238Mitochondrial complex I deficiency, nuclear type 16Autosomal recessive
5602694NDUFS4252010Mitochondrial complex I deficiency, nuclear type 1Autosomal recessive
5603848NDUFS6618232Mitochondrial complex I deficiency, nuclear type 9Autosomal recessive
19601825NDUFS7618224Mitochondrial complex I deficiency, nuclear type 3Autosomal recessive
11161015NDUFV1618225Mitochondrial complex I deficiency, nuclear type 4Autosomal recessive
2161650NEB256030Nemaline myopathy type 2Autosomal recessive
6608272NEU1256550Sialidosis, type 1 and type 2Autosomal recessive
5606470NHP2613987Dyskeratosis congenita, autosomal recessive type 2Autosomal recessive
19609661NLRP7231090Hydatidiform mole, recurrent, type 1Autosomal recessive
15606471NOP10224230Dyskeratosis congenita, autosomal recessive type 1Autosomal recessive
18607623NPC1257220Niemann-Pick disease, type C1Autosomal recessive
14601015NPC2607625Niemann-pick disease, type C2Autosomal recessive
2607100NPHP1609583Joubert syndrome type 4Autosomal recessive
19602716NPHS1256300Nephrotic syndrome, type 1Autosomal recessive
1604766NPHS2600995Nephrotic syndrome, type 2Autosomal recessive
X300473NR0B1300200Adrenal hypoplasia, congenitalX-linked
15604485NR2E3268100; 611131*Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37Autosomal recessive; Autosomal recessive*
1191315NTRK1256800Insensitivity to pain, congenital, with anhidrosisAutosomal recessive
10613349OAT258870Gyrate atrophy of choroid and retinaAutosomal recessive
15611409OCA2203200Oculocutaneous albinism type 2Autosomal recessive
X300535OCRL309000; 300555Lowe Syndrome; Dent disease type 2X-linked
19606580OPA32585013-methylglutaconic aciduria, type 3Autosomal recessive
X300127OPHN1300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearanceX-linked
6607649OSTM1259720Osteopetrosis, autosomal recessive type 5Autosomal recessive
X300461OTC311250Ornithine transcarbamylase deficiencyX-linked
2603681OTOF601071Deafness, autosomal recessive, type 9Autosomal recessive
1610339P3H1LEPRE1610915Osteogenesis imperfecta, type 8Autosomal recessive
12612349PAH261600PhenylketonuriaAutosomal recessive
X300142PAK3300558Mental retardation, X-linked, type 30X-linked
20606157PANK2234200Neurodegeneration with brain iron accumulation type 1Autosomal recessive
11608786PC266150Pyruvate carboxylase deficiencyAutosomal recessive
10126090PCBD1264070Hyperphenylalaninemia, BH4-deficient, type DAutosomal recessive
13232000PCCA606054Propionic acidemiaAutosomal recessive
3232050PCCB606054Propionic acidemiaAutosomal recessive
10605514PCDH15609533; 601067Deafness, autosomal recessive, type 23; Usher syndrome, type 1D/F digenicAutosomal recessive
5180071PDE6A613810Retinitis pigmentosa type 43Autosomal recessive
X300502PDHA1312170Pyruvate dehydrogenase E1-alpha deficiencyX-linked
3179060PDHB614111Pyruvate dehydrogenase E1-beta deficiencyAutosomal recessive
7602136PEX1234580Heimler syndrome type 1Autosomal recessive
1602859PEX10614870; 614871Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6BAutosomal recessive
17601758PEX12614859Peroxisome biogenesis disorder type 3A (Zellweger)Autosomal recessive
8170993PEX2614866Peroxisome biogenesis disorder type 5A (Zellweger)Autosomal recessive
22608666PEX26614872Peroxisome biogenesis disorder type 7A (Zellweger)Autosomal recessive
12600414PEX5214110Peroxisome biogenesis disorder type 2A (Zellweger)Autosomal recessive
6601498PEX6614862; 616617*; 614863Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2Autosomal recessive; Autosomal recessive*; Autosomal recessive
6601757PEX7215100Rhizomelic chondrodysplasia punctata, type 1Autosomal recessive
12610681PFKM232800Glycogen storage disease, type 7Autosomal recessive
X311800PGK1300653Phosphoglycerate kinase 1 deficiencyX-linked
X300560PHF8300263Mental retardation syndrome, X-linked, Siderius typeX-linked
1606879PHGDH256520; 601815Neu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiencyAutosomal recessive
6606702PKHD1263200Polycystic kidney disease type 4Autosomal recessive
22603604PLA2G6256600Infantile neuroaxonal dystrophy type 1Autosomal recessive
1153454PLOD1225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1Autosomal recessive
X300401PLP1312080Pelizaeus-Merzbacher diseaseX-linked
16601785PMM2212065Congenital disorder of glycosylation, type 1AAutosomal recessive
17603287PNPO610090Pyridoxamine 5'-phosphate oxidase deficiencyAutosomal recessive
15174763POLG203700; 613662; 607459POLG-related disordersAutosomal recessive
6610060POLR1C616494; 248390Leukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3Autosomal recessive
1606822POMGNT1253280; 613151; 613157Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])Autosomal recessive
9607423POMT1236670; 613155; 609308Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])Autosomal recessive
14607439POMT2613150; 613156; 613158Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])Autosomal recessive
7124015POR201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesisAutosomal recessive
3173110POU1F1613038*Pituitary hormone deficiency, combined, type 1Autosomal recessive*
X300039POU3F4304400Deafness, X-linked, type 2X-linked
4611065PPM1K615135?Maple syrup urine disease, mild variantAutosomal recessive
1600722PPT1256730Ceroid lipofuscinosis, neuronal, type 1Autosomal recessive
X300463PQBP1309500Renpenning syndromeX-linked
1176763PRDX1277400Methylmalonic aciduria and homocystinuria, cblC type, digenicAutosomal recessive, digenic inheritance (MMACHC gene)
10170280PRF1603553Hemophagocytic lymphohistiocytosis, familial, type 2Autosomal recessive
22606810PRODH239500Hyperprolinemia, type 1Autosomal recessive
5601538PROP1262600Pituitary hormone deficiency, combined, type 2Autosomal recessive
X311850PRPS1300661; 304500; 311070; 301835PRPS1-related disodersX-linked
10176801PSAP611721Combined SAP deficiencyAutosomal recessive
11612719PTS261640Hyperphenylalaninemia, BH4-deficient, type AAutosomal recessive
12608109PUS1600462Myopathy, lactic acidosis, and sideroblastic anemia, type 1Autosomal recessive
11608455PYGM232600McArdle diseaseAutosomal recessive
4612676QDPR261630Hyperphenylalaninemia, BH4-deficient, type CAutosomal recessive
6606144RAB23201000Carpenter syndromeAutosomal recessive
11179615RAG1603554; 601457Omenn syndrome; Severe combined immunodeficiency, B cell-negativeAutosomal recessive
11179616RAG2603554; 601457Omenn syndrome; Severe combined immunodeficiency, B cell-negativeAutosomal recessive
11601592RAPSN208150; 616326Fetal akinesia deformation sequence, type 2; Myasthenic syndrome, congenital, type 11, associated with AChR deficiencyAutosomal recessive
6611524RARS2611523Pontocerebellar hypoplasia, type 6Autosomal recessive
18601881RAX611038Isolated microphthalmia, type 3Autosomal recessive
14608830RDH12612712Leber congenital amaurosis, type 13Autosomal recessive
11610330RNASEH2C610329Aicardi-Goutieres syndrome, type 3Autosomal recessive
X300757RP2312600Retinitis pigmentosa, type 2, X-linkedX-linked
1180069RPE65204100; 613794RPE65-related Leber congenital amaurosis/early-onset severe retinal dystrophy Autosomal recessive
X312610RPGR300029; 304020Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1X-linked
16610937RPGRIP1L611560; 611561; 619113Joubert syndrome, type 7; Meckel syndrome, type 5; COACH syndromeAutosomal recessive
X300839RS1312700RetinoschisisX-linked
20608833RTEL1615190*Dyskeratosis congenita, autosomal recessive type 5Autosomal recessive*
13604490SACS270550Spastic ataxia, Charlevoix-Saguenay, typeAutosomal recessive
2181031SAG258100Oguchi disease, type 1Autosomal recessive
20606754SAMHD1612952Aicardi-Goutieres syndrome, type 5Autosomal recessive
7607444SBDS260400Shwachman-Diamond syndromeAutosomal recessive
4613009SEPSECS613811Pontocerebellar hypoplasia, type 2DAutosomal recessive
14107400SERPINA1613490Alpha-1 antitrypsin deficiencyAutosomal recessive
17600119SGCA608099Limb-girdle muscular dystrophy, type 3 (LGMD R3)Autosomal recessive
4600900SGCB604286Limb-girdle muscular dystrophy, type 4 (LGMD R4)Autosomal recessive
5601411SGCD601287Limb-girdle muscular dystrophy, type 6 (LGMD R6)Autosomal recessive
13608896SGCG253700Limb-girdle muscular dystrophy, type 5 (LGMD R5)Autosomal recessive
17605270SGSH252900Mucopolysaccharidosis, type 3A (Sanfilippo A)Autosomal recessive
X300490SH2D1A308240Lymphoproliferative syndrome, X-linked, type 1X-linked
5608206SH3TC2601596Charcot-Marie-Tooth disease, type 4CAutosomal recessive
16600968SLC12A3263800Gitelman syndromeAutosomal recessive
15604878SLC12A6218000Agenesis of the corpus callosum with peripheral neuropathyAutosomal recessive
X300095SLC16A2300523Allan-Herndon-Dudley syndromeX-linked
6604322SLC17A5604369Salla diseaseAutosomal recessive
1603941SLC19A2249270Thiamine-responsive megaloblastic anemia syndromeAutosomal recessive
5603377SLC22A5212140Carnitine deficiency, systemic primaryAutosomal recessive
7603859SLC25A13605814; 603471Citrullinemia, type 2, neonatal-onset; Citrullinemia, type 2, adult-onsetAutosomal recessive
13603861SLC25A15238970Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAutosomal recessive
3613698SLC25A20212138Carnitine-acylcarnitine translocase deficiencyAutosomal recessive
5606718SLC26A2600972Achondrogenesis, type 1B (diastrophic dysplasia)Autosomal recessive
7126650SLC26A3214700Diarrhea 1, secretory chloride, congenitalAutosomal recessive
7605646SLC26A4600791; 274600Deafness, autosomal recessive, type 4; Pendred syndromeAutosomal recessive
6605634SLC35A1603585Congenital disorder of glycosylation, type 2FAutosomal recessive
1605632SLC35A3615553?Arthrogryposis, mental retardation, and seizuresAutosomal recessive
11605881SLC35C1266265Congenital disorder of glycosylation, type 2CAutosomal recessive
1610804SLC35D1269250Schneckenbecken dysplasiaAutosomal recessive
11602671SLC37A4232220Glycogen storage disease, type 1BAutosomal recessive
8607059SLC39A4201100Acrodermatitis enteropathicaAutosomal recessive
2104614SLC3A1220100*CystinuriaAutosomal recessive*
5606202SLC45A2606574Albinism, oculocutaneous, type 4Autosomal recessive
17611672SLC46A1229050Folate malabsorption, hereditaryAutosomal recessive
20610206SLC4A11217700Corneal endothelial dystrophy, autosomal recessiveAutosomal recessive
19601843SLC5A5274400Thyroid dyshormonogenesis, type 1Autosomal recessive
5608893SLC6A19234500Hartnup disorderAutosomal recessive
X300036SLC6A8300352Cerebral creatine deficiency syndrome, type 1X-linked
14603593SLC7A7222700Lysinuric protein intoleranceAutosomal recessive
19604144SLC7A9220100*CystinuriaAutosomal recessive*
2606622SMARCAL1242900Schimke immunoosseous dysplasiaAutosomal recessive
5600354SMN1253300Spinal muscular atrophyAutosomal recessive
11607608SMPD1257200; 607616Niemann-Pick disease, type A; Niemann-Pick disease, type BAutosomal recessive
15610844SPG11602099Amyotrophic lateral sclerosis, type 5, juvenileAutosomal recessive
16602783SPG7607259Spastic paraplegia, type 7, autosomal recessiveAutosomal recessive
2607306SRD5A226460046,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias)Autosomal recessive
2604402ST3GAL5609056Salt and pepper developmental regression syndromeAutosomal recessive
8600617STAR201710Lipoid adrenal hyperplasiaAutosomal recessive
3607939SUMF1272200Multiple sulfatase deficiencyAutosomal recessive
9185620SURF1616684; 256000Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiencyAutosomal recessive
X313440SYN1300491Epilepsy, X-linked, with variable learning disabilities and behavior disordersX-linked
16613018TAT276600Tyrosinemia, type 2Autosomal recessive
11604592TCIRG1259700Osteopetrosis, autosomal recessive, type 1Autosomal recessive
14615000TECPR2615031Spastic paraplegia, type 49, autosomal recessiveAutosomal recessive
7604720TFR2604250Hemochromatosis, type 3Autosomal recessive
8188450TG274700Thyroid dyshormonogenesis, type 3Autosomal recessive
14190195TGM1242300Ichthyosis, congenital, autosomal recessive, type 1Autosomal recessive
11191290TH605407Segawa syndrome, recessiveAutosomal recessive
X300395THOC2300957Mental retardation, X-linked 12X-linked
11613277TMEM216608091; 603194Joubert syndrome, type 2; Meckel syndrome, type 2Autosomal recessive
8609884TMEM67610688; 607361; 216360Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndromeAutosomal recessive
21605511TMPRSS3601072Deafness, autosomal recessive, type 8/10Autosomal recessive
2606765TPO274500Thyroid dyshormonogenesis, type 2AAutosomal recessive
11607998TPP1204500; 609270 Ceroid lipofuscinosis, neuronal, type 2; Spinocerebellar ataxia, autosomal recessive, type 7Autosomal recessive
6603283TRDN615441Ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weaknessAutosomal recessive
3606609TREX1225750Aicardi-Goutieres syndrome, type 1Autosomal recessive
9602290TRIM32254110Limb-girdle muscular dystrophy, type 8 (LGMD R8)Autosomal recessive
17605073TRIM37253250Mulibrey nanismAutosomal recessive
22610230TRMU613070Liver failure, transient infantileAutosomal recessive
17608755TSEN54277470; 225753Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4Autosomal recessive
12604723TSFM610505Combined oxidative phosphorylation deficiency, type 3Autosomal recessive
1188540TSHB275100Hypothyroidism, congenital, nongoitrous, type 4Autosomal recessive
14603372TSHR275200Hypothyroidism, congenital, nongoitrous, type 1Autosomal recessive
5614589TTC37222470Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic)Autosomal recessive
8600415TTPA277460Ataxia with isolated vitamin E deficiencyAutosomal recessive
22131222TYMP603041Mitochondrial DNA depletion syndrome, type 1 (MNGIE type)Autosomal recessive
11606933TYR203100; 606952Oculocutaneous albinism (OCA) type 1A; OCA type 1BAutosomal recessive
9115501TYRP1203290Albinism, oculocutaneous, type 3Autosomal recessive
15601623UBE3A105830Angelman syndromeAutosomal dominant
2191740UGT1A1606785; 218800Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2Autosomal recessive
17608897UNC13D608898Hemophagocytic lymphohistiocytosis, familial, type 3Autosomal recessive
X300298UPF3B300676Mental retardation, X-linked, syndromic, type 14X-linked
11605242USH1C276904; 602092Usher syndrome, type 1C; Deafness, autosomal recessive, type 18AAutosomal recessive
17607696USH1G606943Usher syndrome, type 1GAutosomal recessive
1608400USH2A276901Usher syndrome, type 2AAutosomal recessive
9605978VPS13A200150ChoreoacanthocytosisAutosomal recessive
8607817VPS13B216550Cohen syndromeAutosomal recessive
1610035VPS45615285Neutropenia, severe congenital, type 5Autosomal recessive
17615850VPS53615851Pontocerebellar hypoplasia, type 2EAutosomal recessive
14602168VRK1607596Pontocerebellar hypoplasia, type 1AAutosomal recessive
14142993VSX2610092; 610093Microphthalmia with coloboma 3; Isolated microphthalmia 2Autosomal recessive
X300392WAS301000; 313900Wiskott-Aldrich syndrome; Thrombocytopenia, X-linkedX-linked
9607928WHRNDFNB31611383; 607084Usher syndrome, type 2D; Deafness, autosomal recessive, type 31Autosomal recessive
2606268WNT10A257980Odontoonychodermal dysplasiaAutosomal recessive
8604611WRN277700Werner syndromeAutosomal recessive
9611153XPA278700Xeroderma pigmentosum, group AAutosomal recessive
3613208XPC278720Xeroderma pigmentosum, group CAutosomal recessive
X300646ZDHHC9300799Mental retardation, X-linked syndromic, Raymond typeX-linked
14612012ZFYVE26270700Spastic paraplegia, type 15, autosomal recessiveAutosomal recessive
X314990ZNF711300803Mental retardation, X-linked, type 97X-linked
  • CGT Bank v3.3.10
  • CGT Bank v3.3.11
  • Historic Versions
chromOMIM (gene)geneprevious symbolOMIM (phen)disease name (phenotype)inheritance
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
X300553BRWD3300659Mental retardation, X-linked, type 93X-linked
X300300BTK300755Agammaglobulinemia X-linked, type 1X-linked
X300386CD40LG308230Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
7602421CFTR219700Cystic fibrosisAutosomal recessive
X300390CHM303100ChoroideremiaX-linked
X303630COL4A5301050Alport syndrome, X-linkedX-linked
X300304CUL4B300354Mental retardation, X-linked, syndromic, type 15 (Cabezas type)X-linked
X300481CYBB306400Chronic granulomatous disease, X-linkedX-linked
6613815CYP21A2201910Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAutosomal recessive
X300121DCX300067Lissencephaly, X-linked, type 1X-linked
X300126DKC1305000Dyskeratosis congenita, X-linkedX-linked
X300189DLG3300850Mental retardation, X-linked, type 90X-linked
X300377DMD310200; 300376Duchenne/Becker muscular dystrophyX-linked
X300451EDA305100Ectodermal dysplasia, type 1, hypohidrotic, X-linkedX-linked
X300384EMD310300Emery-Dreifuss muscular dystrophy, type 1, X-linkedX-linked
X300841F8306700Hemophilia AX-linked
X300746F9306900Hemophilia BX-linked
X300546FGD1305400Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16X-linked
X309550FMR1300624Fragile X syndromeX-linked
X300499FTSJ1309549Mental retardation, X-linked 44X-linked
X305900G6PD300908Hemolytic anemia, G6PD deficient (favism)X-linked
X304040GJB1302800Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1X-linked
13121011GJB2220290Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB6 gene)
X300644GLA301500Fabry diseaseX-linked
X300808GPR143300500Ocular albinism, type 1 (Nettleship-Falls type)X-linked
16141800HBA1604131Thalassemia, alpha-Autosomal recessive
16141850HBA2604131Thalassemia, alpha-Autosomal recessive
11141900HBB603903HBB-related hemoglobinopathyAutosomal recessive
X300019HCFC1309541Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )X-linked
X308000HPRT1300322Lesch-Nyhan syndromeX-linked
X300256HSD17B10300438HSD10 mitochondrial diseaseX-linked
X300823IDS309900Mucopolysaccharidosis, type 2X-linked
X300206IL1RAPL1300143Mental retardation, X-linked, type 21/34X-linked
X308380IL2RG300400Severe combined immunodeficiency, X-linkedX-linked
X314690KDM5C300534Mental retardation, X-linked, syndromic, Claes-Jensen typeX-linked
X308840L1CAM307000; 303350; 304100L1 SyndromeX-linked
X300005MECP2300673; 312750Encephalopathy, neonatal severe; Rett syndromeX-linked
X300415MTM1310400Myotubular myopathy, X-linkedX-linked
X300658NDP310600Norrie diseaseX-linked
X300473NR0B1300200Adrenal hypoplasia, congenitalX-linked
X300535OCRL309000; 300555Lowe Syndrome; Dent disease type 2X-linked
X300127OPHN1300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearanceX-linked
X300461OTC311250Ornithine transcarbamylase deficiencyX-linked
X300142PAK3300558Mental retardation, X-linked, type 30X-linked
X300502PDHA1312170Pyruvate dehydrogenase E1-alpha deficiencyX-linked
X311800PGK1300653Phosphoglycerate kinase 1 deficiencyX-linked
X300560PHF8300263Mental retardation syndrome, X-linked, Siderius typeX-linked
X300401PLP1312080Pelizaeus-Merzbacher diseaseX-linked
X300039POU3F4304400Deafness, X-linked, type 2X-linked
X300463PQBP1309500Renpenning syndromeX-linked
X311850PRPS1300661; 304500; 311070; 301835PRPS1-related disodersX-linked
X300757RP2312600Retinitis pigmentosa, type 2, X-linkedX-linked
X312610RPGR300029; 304020Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1X-linked
X300839RS1312700RetinoschisisX-linked
X300490SH2D1A308240Lymphoproliferative syndrome, X-linked, type 1X-linked
X300095SLC16A2300523Allan-Herndon-Dudley syndromeX-linked
X300036SLC6A8300352Cerebral creatine deficiency syndrome, type 1X-linked
5600354SMN1253300Spinal muscular atrophyAutosomal recessive
X313440SYN1300491Epilepsy, X-linked, with variable learning disabilities and behavior disordersX-linked
X300395THOC2300957Mental retardation, X-linked 12X-linked
X300298UPF3B300676Mental retardation, X-linked, syndromic, type 14X-linked
X300392WAS301000; 313900Wiskott-Aldrich syndrome; Thrombocytopenia, X-linkedX-linked
X300646ZDHHC9300799Mental retardation, X-linked syndromic, Raymond typeX-linked
X314990ZNF711300803Mental retardation, X-linked, type 97X-linked
chromOMIM (gene)GenePrevious SymbolOMIM (phen)disease name (phenotype)inheritance
X300371ABCD1300100AdrenoleukodystrophyX-linked
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
2604285AGXT259900Hyperoxaluria, primary, type 1Autosomal recessive
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
22607574ARSA250100Metachromatic leukodystrophyAutosomal recessive
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
X300553BRWD3300659Mental retardation, X-linked, type 93X-linked
3609019BTD253260Biotinidase deficiencyAutosomal recessive
X300300BTK300755Agammaglobulinemia X-linked, type 1X-linked
21613381CBS236200Homocystinuria due to cystathionine beta-synthaseAutosomal recessive
X300386CD40LG308230Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
7602421CFTR219700Cystic fibrosisAutosomal recessive
X300390CHM303100ChoroideremiaX-linked
X303630COL4A5301050Alport syndrome, X-linkedX-linked
X300304CUL4B300354Mental retardation, X-linked, syndromic, type 15 (Cabezas type)X-linked
X300481CYBB306400Chronic granulomatous disease, X-linkedX-linked
X300121DCX300067Lissencephaly, X-linked, type 1X-linked
11602858DHCR7270400Smith-Lemli-Opitz syndromeAutosomal recessive
X300126DKC1305000Dyskeratosis congenita, X-linkedX-linked
X300189DLG3300850Mental retardation, X-linked, type 90X-linked
X300377DMD310200; 300376Duchenne/Becker muscular dystrophyX-linked
X300451EDA305100Ectodermal dysplasia, type 1, hypohidrotic, X-linkedX-linked
X300384EMD310300Emery-Dreifuss muscular dystrophy, type 1, X-linkedX-linked
X300841F8306700Hemophilia AX-linked
X300746F9306900Hemophilia BX-linked
X300546FGD1305400Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16X-linked
X309550FMR1300624Fragile X syndromeX-linked
X300499FTSJ1309549Mental retardation, X-linked 44X-linked
X305900G6PD300908Hemolytic anemia, G6PD deficient (favism)X-linked
17606800GAA232300Glycogen storage disease, type 2Autosomal recessive
9606999GALT230400GalactosemiaAutosomal recessive
X304040GJB1302800Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1X-linked
13121011GJB2220290Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB6 gene)
X300644GLA301500Fabry diseaseX-linked
X300808GPR143300500Ocular albinism, type 1 (Nettleship-Falls type)X-linked
2600890HADHA609016; 609015Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiencyAutosomal recessive
16141800HBA1604131Thalassemia, alpha-Autosomal recessive
16141850HBA2604131Thalassemia, alpha-Autosomal recessive
11141900HBB603903HBB-related hemoglobinopathyAutosomal recessive
X300019HCFC1309541Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )X-linked
X308000HPRT1300322Lesch-Nyhan syndromeX-linked
X300256HSD17B10300438HSD10 mitochondrial diseaseX-linked
X300823IDS309900Mucopolysaccharidosis, type 2X-linked
X300206IL1RAPL1300143Mental retardation, X-linked, type 21/34X-linked
X308380IL2RG300400Severe combined immunodeficiency, X-linkedX-linked
X314690KDM5C300534Mental retardation, X-linked, syndromic, Claes-Jensen typeX-linked
X308840L1CAM307000; 303350; 304100L1 SyndromeX-linked
X300005MECP2300673; 312750Encephalopathy, neonatal severe; Rett syndromeX-linked
1609831MMACHC277400Methylmalonic aciduria and homocystinuria, cblC typeAutosomal recessive, digenic inheritance (PRDX1 gene)
X300415MTM1310400Myotubular myopathy, X-linkedX-linked
X300658NDP310600Norrie diseaseX-linked
X300473NR0B1300200Adrenal hypoplasia, congenitalX-linked
X300535OCRL309000; 300555Lowe Syndrome; Dent disease type 2X-linked
X300127OPHN1300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearanceX-linked
X300461OTC311250Ornithine transcarbamylase deficiencyX-linked
12612349PAH261600PhenylketonuriaAutosomal recessive
X300142PAK3300558Mental retardation, X-linked, type 30X-linked
X300502PDHA1312170Pyruvate dehydrogenase E1-alpha deficiencyX-linked
X311800PGK1300653Phosphoglycerate kinase 1 deficiencyX-linked
X300560PHF8300263Mental retardation syndrome, X-linked, Siderius typeX-linked
X300401PLP1312080Pelizaeus-Merzbacher diseaseX-linked
16601785PMM2212065Congenital disorder of glycosylation, type 1AAutosomal recessive
X300039POU3F4304400Deafness, X-linked, type 2X-linked
X300463PQBP1309500Renpenning syndromeX-linked
X311850PRPS1300661; 304500; 311070; 301835PRPS1-related disodersX-linked
X300757RP2312600Retinitis pigmentosa, type 2, X-linkedX-linked
X312610RPGR300029; 304020Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1X-linked
X300839RS1312700RetinoschisisX-linked
X300490SH2D1A308240Lymphoproliferative syndrome, X-linked, type 1X-linked
X300095SLC16A2300523Allan-Herndon-Dudley syndromeX-linked
5606718SLC26A2600972Achondrogenesis, type 1B (diastrophic dysplasia)Autosomal recessive
X300036SLC6A8300352Cerebral creatine deficiency syndrome, type 1X-linked
5600354SMN1253300Spinal muscular atrophyAutosomal recessive
X313440SYN1300491Epilepsy, X-linked, with variable learning disabilities and behavior disordersX-linked
X300395THOC2300957Mental retardation, X-linked 12X-linked
X300298UPF3B300676Mental retardation, X-linked, syndromic, type 14X-linked
X300392WAS301000; 313900Wiskott-Aldrich syndrome; Thrombocytopenia, X-linkedX-linked
X300646ZDHHC9300799Mental retardation, X-linked syndromic, Raymond typeX-linked
X314990ZNF711300803Mental retardation, X-linked, type 97X-linked