{"id":58,"date":"2023-09-12T11:41:43","date_gmt":"2023-09-12T09:41:43","guid":{"rendered":"https:\/\/cgt-panel.igenomix.eu\/?page_id=58"},"modified":"2024-05-31T11:15:53","modified_gmt":"2024-05-31T09:15:53","slug":"cgt-list","status":"publish","type":"page","link":"https:\/\/cgt-panels.igenomix.com\/","title":{"rendered":"CGT List"},"content":{"rendered":"\n
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CGT: Tests list
<\/h2>\n\n\n\n

Select your test and find the gene, mutations and diseases related to them.<\/p>\n\n\n\n

    \n
  • CGT Exome<\/li>\n
  • CGT Plus<\/li>\n
  • CGT Donor<\/li>\n<\/ul>\n
    \n
      \n
    • CGT 600<\/li>\n
    • CGT 250<\/li>\n
    • CGT Basic<\/li>\n
    • CGT Essential<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n\n
      \n
      \"\"<\/figure>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n
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      • CGT Exome v5.4.5<\/li>\n\n<\/ul>\n
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\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t
        Chromosome<\/th>Gene symbol<\/th>OMIM (gene)<\/th>Disease name (phenotype)<\/th>Inheritance<\/th>\n<\/tr>\n<\/thead>\n
        12<\/td>AAAS<\/td>605378<\/td>Triple-A syndrome (achalasia-addisonianism-alacrimia)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>AARS1<\/td>601065<\/td>Epileptic encephalopathy, early infantile, type 29<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>AARS2<\/td>612035<\/td>Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>AASS<\/td>605113<\/td>Hyperlysinemia, type 1 and type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ABAT<\/td>137150<\/td>GABA-transaminase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ABCA1<\/td>600046<\/td>Tangier disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ABCA12<\/td>607800<\/td>Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ABCA3<\/td>601615<\/td>Surfactant metabolism dysfunction, pulmonary, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ABCA4<\/td>601691<\/td>Stargardt disease 1; Retinitis pigmentosa 19; Cone-rod dystrophy 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ABCB11<\/td>603201<\/td>Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>ABCB4<\/td>171060<\/td>Cholestasis, progressive familial intrahepatic, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ABCC2<\/td>601107<\/td>Dubin-Johnson syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ABCC6<\/td>603234<\/td>Pseudoxanthoma elasticum; Generalized arterial calcification of infancy, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ABCC8<\/td>600509<\/td>Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        X<\/td>ABCD1<\/td>300371<\/td>Adrenoleukodystrophy<\/td>X-linked<\/td>\n<\/tr>\n
        14<\/td>ABCD4<\/td>603214<\/td>Methylmalonic aciduria and homocystinuria, cblJ type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ABCG5<\/td>605459<\/td>Sitosterolemia 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ABCG8<\/td>605460<\/td>Sitosterolemia 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>ABHD12<\/td>613599<\/td>PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ABHD5<\/td>604780<\/td>Chanarin-Dorfman syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ACAD8<\/td>604773<\/td>Isobutyryl-CoA dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ACAD9<\/td>611103<\/td>Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ACADM<\/td>607008<\/td>Medium-chain acyl-CoA dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>ACADS<\/td>606885<\/td>Short-chain acyl-CoA dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ACADSB<\/td>600301<\/td>Short\/branched-chain acyl-CoA dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ACADVL<\/td>609575<\/td>Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ACAT1<\/td>607809<\/td>Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ACE<\/td>106180<\/td>Renal tubular dysgenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>ACO2<\/td>100850<\/td>Infantile cerebellar-retinal degeneration<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ACOX1<\/td>609751<\/td>Peroxisomal acyl-CoA oxidase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ACOX2<\/td>601641<\/td>Bile acid synthesis defect, congenital, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ACP5<\/td>171640<\/td>Spondyloenchondrodysplasia with immune dysregulation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ACSF3<\/td>614245<\/td>Combined malonic and methylmalonic aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ACTA1<\/td>102610<\/td>Nemaline myopathy 3; Congenital fiber-type disproportion myopathy 1<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        3<\/td>ACY1<\/td>104620<\/td>Aminoacylase 1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>ADA<\/td>608958<\/td>Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>ADA2<\/td>607575<\/td>Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome; Sneddon syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>ADAM9<\/td>602713<\/td>Cone-rod dystrophy 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ADAMTS10<\/td>608990<\/td>Weill-Marchesani syndrome, type 1, recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ADAMTS13<\/td>604134<\/td>Thrombotic thrombocytopenic purpura, familial (Schulman-Upshaw syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>ADAMTS17<\/td>607511<\/td>Weill-Marchesani syndrome, type 4, recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ADAMTS18<\/td>607512<\/td>Microcornea, myopic chorioretinal atrophy, and telecanthus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>ADAMTS2<\/td>604539<\/td>Ehlers-Danlos syndrome, dermatosparaxis type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ADAMTSL2<\/td>612277<\/td>Geleophysic dysplasia type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ADAMTSL4<\/td>610113<\/td>Ectopia lentis et pupillae; Ectopia lentis, isolated, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ADAR<\/td>146920<\/td>Aicardi-Goutieres syndrome, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ADAT3<\/td>615302<\/td>Mental retardation, autosomal recessive 36<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ADGRG1<\/td>604110<\/td>Polymicrogyria, bilateral frontoparietal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>ADGRG6<\/td>612243<\/td>Lethal congenital contracture syndrome 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>ADGRV1<\/td>602851<\/td>Usher syndrome, type 2C<\/td>Autosomal recessive; Digenic inheritance (PDZD7 gene)<\/td>\n<\/tr>\n
        10<\/td>ADK<\/td>102750<\/td>Hypermethioninemia due to adenosine kinase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>ADSL<\/td>608222<\/td>Adenylosuccinase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>ADSS1<\/td>612498<\/td>Myopathy, distal, 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>AFG3L2<\/td>604581<\/td>Spastic ataxia, type 5, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>AFP<\/td>104150<\/td>Alpha-fetoprotein deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>AGA<\/td>613228<\/td>Aspartylglucosaminuria (glycosylasparaginase deficiency)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>AGBL5<\/td>615900<\/td>Retinitis pigmentosa 75<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>AGK<\/td>610345<\/td>Cataract 38; Sengers syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>AGL<\/td>610860<\/td>Glycogen storage disease, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>AGPAT2<\/td>603100<\/td>Congenital generalized lipodystrophy (Berardinelli-Seip syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>AGPS<\/td>603051<\/td>Rhizomelic chondrodysplasia punctata, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>AGRN<\/td>103320<\/td>Myasthenic syndrome, congenital, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>AGT<\/td>106150<\/td>Renal tubular dysgenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>AGTR1<\/td>106165<\/td>Renal tubular dysgenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>AGXT<\/td>604285<\/td>Hyperoxaluria, primary, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>AHCY<\/td>180960<\/td>Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>AHI1<\/td>608894<\/td>Joubert syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>AICDA<\/td>605257<\/td>Immunodeficiency with hyper-IgM, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>AIMP1<\/td>603605<\/td>Leukodystrophy, hypomyelinating, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>AIMP2<\/td>600859<\/td>Leukodystrophy, hypomyelinating, type 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>AIPL1<\/td>604392<\/td>Leber congenital amaurosis, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>AIRE<\/td>607358<\/td>Autoimmune polyendocrinopathy syndrome, type 1<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        9<\/td>AK1<\/td>103000<\/td>Hemolytic anemia due to adenylate kinase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>AK2<\/td>103020<\/td>Reticular dysgenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>AKR1C2<\/td>600450<\/td>46,XY disorder of sex development due to testicular 17,20-desmolase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>AKR1D1<\/td>604741<\/td>Bile acid synthesis defect, congenital, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ALAD<\/td>125270<\/td>Porphyria, acute hepatic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>ALB<\/td>103600<\/td>Analbuminemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ALDH18A1<\/td>138250<\/td>Spastic paraplegia, type 9B, autosomal recessive; Cutis laxa, type 3A (De Barsy syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>ALDH1A3<\/td>600463<\/td>Microphthalmia, isolated 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ALDH3A2<\/td>609523<\/td>Sjogren-Larsson syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ALDH4A1<\/td>606811<\/td>Hyperprolinemia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>ALDH5A1<\/td>610045<\/td>Succinic semialdehyde dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>ALDH6A1<\/td>603178<\/td>Methylmalonate semialdehyde dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>ALDH7A1<\/td>107323<\/td>Epilepsy, pyridoxine-dependent<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ALDOA<\/td>103850<\/td>Glycogen storage disease type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ALDOB<\/td>612724<\/td>Fructose intolerance, hereditary<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ALG1<\/td>605907<\/td>Congenital disorder of glycosylation, type 1K<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>ALG11<\/td>613666<\/td>Congenital disorder of glycosylation, type 1P<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>ALG12<\/td>607144<\/td>Congenital disorder of glycosylation, type 1G<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ALG2<\/td>607905<\/td>Myasthenic syndrome, congenital, type 14, with tubular aggregates<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ALG3<\/td>608750<\/td>Congenital disorder of glycosylation, type 1D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ALG6<\/td>604566<\/td>Congenital disorder of glycosylation, type 1C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ALG8<\/td>608103<\/td>Congenital disorder of glycosylation, type 1H<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ALG9<\/td>606941<\/td>Congenital disorder of glycosylation, type 1L; Gillessen-Kaesbach-Nishimura syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ALMS1<\/td>606844<\/td>Alstr\u00f6m syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ALOX12B<\/td>603741<\/td>Ichthyosis, congenital, autosomal recessive, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ALOXE3<\/td>607206<\/td>Ichthyosis, congenital, autosomal recessive, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>ALPK3<\/td>617608<\/td>Cardiomyopathy, familial hypertrophic, type 27<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ALPL<\/td>171760<\/td>ALPL-related conditions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ALS2<\/td>606352<\/td>Amyotrophic lateral sclerosis, type 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>ALX1<\/td>601527<\/td>Frontonasal dysplasia, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ALX3<\/td>606014<\/td>Frontonasal dysplasia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ALX4<\/td>605420<\/td>Frontonasal dysplasia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>AMACR<\/td>604489<\/td>Bile acid synthesis defect, congenital, type 4; Alpha-methylacyl-CoA racemase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>AMBN<\/td>601259<\/td>Amelogenesis imperfecta, type IF<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>AMH<\/td>600957<\/td>Persistent Mullerian duct syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>AMHR2<\/td>600956<\/td>Persistent Mullerian duct syndrome, type II<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>AMN<\/td>605799<\/td>Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>AMPD1<\/td>102770<\/td>Myopathy due to myoadenylate deaminase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>AMPD2<\/td>102771<\/td>Pontocerebellar hypoplasia, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>AMT<\/td>238310<\/td>Glycine encephalopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ANGPTL3<\/td>604774<\/td>Hypobetalipoproteinemia, familial, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ANKS6<\/td>615370<\/td>Nephronophthisis 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ANO10<\/td>613726<\/td>Spinocerebellar ataxia, autosomal recessive, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ANO5<\/td>608662<\/td>Limb-girdle muscular dystrophy, type 12 (LGMD R12)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ANTXR1<\/td>606410<\/td>GAPO syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>ANTXR2<\/td>608041<\/td>Hyaline fibromatosis syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>AP1S1<\/td>603531<\/td>MEDNIK syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>AP1S2<\/td>300629<\/td>Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)<\/td>X-linked<\/td>\n<\/tr>\n
        5<\/td>AP3B1<\/td>603401<\/td>Hermansky-Pudlak syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>AP3B2<\/td>602166<\/td>Epileptic encephalopathy, early infantile, type 48<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>AP3D1<\/td>607246<\/td>Hermansky-Pudlak syndrome, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>AP4B1<\/td>607245<\/td>Spastic paraplegia, type 47, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>AP4E1<\/td>607244<\/td>Spastic paraplegia, type 51, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>AP4M1<\/td>602296<\/td>Spastic paraplegia, type 50, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>AP4S1<\/td>607243<\/td>Spastic paraplegia, type 52, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>AP5Z1<\/td>613653<\/td>Spastic paraplegia, type 48, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>APOC2<\/td>608083<\/td>Hyperlipoproteinemia, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>APOE<\/td>107741<\/td>Sea-blue histiocyte disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>APRT<\/td>102600<\/td>Adenine phosphoribosyltransferase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>APTX<\/td>606350<\/td>Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>AQP2<\/td>107777<\/td>Diabetes insipidus, nephrogenic, type 2<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        X<\/td>AR<\/td>313700<\/td>Androgen insensitivity syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        20<\/td>ARFGEF2<\/td>605371<\/td>Periventricular heterotopia with microcephaly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>ARG1<\/td>608313<\/td>Argininemia (arginase deficiency)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ARHGDIA<\/td>601925<\/td>Nephrotic syndrome, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ARHGEF18<\/td>616432<\/td>Retinitis pigmentosa 78<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ARL13B<\/td>608922<\/td>Joubert syndrome type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ARL2BP<\/td>615407<\/td>Retinitis pigmentosa with or without situs inversus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ARL6<\/td>608845<\/td>Bardet-Biedl syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ARMC9<\/td>617612<\/td>Joubert syndrome 30<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>ARPC1B<\/td>604223<\/td>Immunodeficiency, type 71, with inflammatory disease and congenital thrombocytopenia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>ARSA<\/td>607574<\/td>Metachromatic leukodystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>ARSB<\/td>611542<\/td>Mucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>ARSL<\/td>300180<\/td>Chondrodysplasia punctata, brachytelephalangic<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>ARV1<\/td>611647<\/td>Epileptic encephalopathy, early infantile, 38<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>ARX<\/td>300382<\/td>Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders<\/td>X-linked<\/td>\n<\/tr>\n
        8<\/td>ASAH1<\/td>613468<\/td>Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>ASL<\/td>608310<\/td>Argininosuccinic aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>ASNS<\/td>108370<\/td>Asparagine synthetase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ASPA<\/td>608034<\/td>Canavan disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>ASPH<\/td>600582<\/td>Traboulsi syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ASPM<\/td>605481<\/td>Primary microcephaly type 5, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ASS1<\/td>603470<\/td>Citrullinemia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ATAD1<\/td>614452<\/td>Hyperekplexia 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ATF6<\/td>605537<\/td>Achromatopsia, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ATIC<\/td>601731<\/td>AICA-ribosiduria due to ATIC deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ATM<\/td>607585<\/td>ATM-related conditions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ATOH7<\/td>609875<\/td>Persistent hyperplastic primary vitreous, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ATP13A2<\/td>610513<\/td>Kufor-Rakeb syndrome; Spastic paraplegia, type 78, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ATP2A1<\/td>108730<\/td>Brody myopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>ATP6V0A2<\/td>611716<\/td>Cutis laxa, autosomal recessive, type 2A; Wrinkly skin syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>ATP6V0A4<\/td>605239<\/td>Renal tubular acidosis, distal, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ATP6V1A<\/td>607027<\/td>Cutis laxa, autosomal recessive, type 2D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ATP6V1B1<\/td>192132<\/td>Renal tubular acidosis with deafness<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>ATP6V1E1<\/td>108746<\/td>Cutis laxa, autosomal recessive, type 2C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>ATP7A<\/td>300011<\/td>Menkes disease; Occipital horn syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        13<\/td>ATP7B<\/td>606882<\/td>Wilson disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>ATP8B1<\/td>602397<\/td>Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ATR<\/td>601215<\/td>Seckel syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>ATRX<\/td>300032<\/td>Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia\/mental retardation syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        9<\/td>AUH<\/td>600529<\/td>3-methylglutaconic aciduria, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>AURKC<\/td>603495<\/td>Spermatogenic failure, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>AVIL<\/td>613397<\/td>Nephrotic syndrome, type 21<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>B2M<\/td>109700<\/td>Immunodeficiency, type 43<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>B3GALNT2<\/td>610194<\/td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>B3GALT6<\/td>615291<\/td>Ehlers-Danlos syndrome, spondylodysplastic type, 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>B3GAT3<\/td>606374<\/td>Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>B3GLCT<\/td>610308<\/td>Peters-plus syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>B4GALNT1<\/td>601873<\/td>Spastic paraplegia, type 26, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>B4GALT1<\/td>137060<\/td>Congenital disorder of glycosylation, type 2D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>B4GALT7<\/td>604327<\/td>Ehlers-Danlos syndrome, spondylodysplastic, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>B4GAT1<\/td>605517<\/td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>B9D1<\/td>614144<\/td>Joubert syndrome, type 27; ?Meckel syndrome 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>B9D2<\/td>611951<\/td>Joubert syndrome, type 34; ?Meckel syndrome, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>BBS1<\/td>209901<\/td>Bardet-Biedl syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>BBS10<\/td>610148<\/td>Bardet-Biedl syndrome, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>BBS12<\/td>610683<\/td>Bardet-Biedl syndrome, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>BBS2<\/td>606151<\/td>Bardet-Biedl syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>BBS4<\/td>600374<\/td>Bardet-Biedl syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>BBS5<\/td>603650<\/td>Bardet-Biedl syndrome, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>BBS7<\/td>607590<\/td>Bardet-Biedl syndrome, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>BBS9<\/td>607968<\/td>Bardet-Biedl syndrome, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>BCAT2<\/td>113530<\/td>?Hypervalinemia or hyperleucine-isoleucinemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>BCHE<\/td>177400<\/td>Butyrylcholinesterase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>BCKDHA<\/td>608348<\/td>Maple syrup urine disease, type 1A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>BCKDHB<\/td>248611<\/td>Maple syrup urine disease, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>BCKDK<\/td>614901<\/td>Branched-chain ketoacid dehydrogenase kinase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>BCL10<\/td>603517<\/td>?Immunodeficiency, type 37<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>BCS1L<\/td>603647<\/td>Mitochondrial complex III deficiency nuclear type 1; GRACILE syndrome; Bjornstad syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>BEST1<\/td>607854<\/td>Bestrophinopathy, AR<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>BFSP1<\/td>603307<\/td>Cataract 33, multiple types<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        17<\/td>BHLHA9<\/td>615416<\/td>Syndactyly, mesoaxial synostotic, with phalangeal reduction<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>BIN1<\/td>601248<\/td>Centronuclear myopathy, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>BLM<\/td>604610<\/td>Bloom syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>BLNK<\/td>604515<\/td>?Agammaglobulinemia 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>BLOC1S3<\/td>609762<\/td>Hermansky-Pudlak syndrome, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>BLOC1S6<\/td>604310<\/td>?Hermansky-Pudlak syndrome, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>BLTP1<\/td>611565<\/td>Alkuraya-Kucinskas syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>BLVRA<\/td>109750<\/td>Hyperbiliverdinemia<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        8<\/td>BMP1<\/td>112264<\/td>Osteogenesis imperfecta, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>BMPER<\/td>608699<\/td>Diaphanospondylodysostosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>BMPR1B<\/td>603248<\/td>Acromesomelic dysplasia, Demirhan type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>BOLA3<\/td>613183<\/td>Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>BPGM<\/td>613896<\/td>Erythrocytosis due to bisphosphoglycerate mutase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>BPNT2<\/td>614010<\/td>Chondrodysplasia with joint dislocations, GPAPP type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>BRAT1<\/td>614506<\/td>Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>BRF1<\/td>604902<\/td>Cerebellofaciodental syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>BRIP1<\/td>605882<\/td>Fanconi anemia, complementation group J<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>BRWD3<\/td>300553<\/td>Mental retardation, X-linked, type 93<\/td>X-linked<\/td>\n<\/tr>\n
        11<\/td>BSCL2<\/td>606158<\/td>Congenital generalized lipodystrophy, type 2; Encephalopathy, progressive, with or without lipodystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>BSND<\/td>606412<\/td>Bartter syndrome, type 4A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>BTD<\/td>609019<\/td>Biotinidase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>BTK<\/td>300300<\/td>Agammaglobulinemia X-linked, type 1<\/td>X-linked<\/td>\n<\/tr>\n
        15<\/td>BUB1B<\/td>602860<\/td>Mosaic variegated aneuploidy syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>C12orf57<\/td>615140<\/td>Temtamy syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>C19orf12<\/td>614297<\/td>Neurodegeneration with brain iron accumulation, type 4<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        1<\/td>C1QA<\/td>120550<\/td>C1q deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>C1QB<\/td>120570<\/td>C1q deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>C1QBP<\/td>601269<\/td>Combined oxidative phosphorylation deficiency 33<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>C1QC<\/td>120575<\/td>C1q deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>C1S<\/td>120580<\/td>C1s deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>C2<\/td>613927<\/td>C2 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>C2CD3<\/td>615944<\/td>Orofaciodigital syndrome, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>C3<\/td>120700<\/td>Complement component 3 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>C5<\/td>120900<\/td>Complement component 5 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>C6<\/td>217050<\/td>Complement component 6 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>C7<\/td>217070<\/td>Complement component 7 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>C8B<\/td>120960<\/td>Complement component 8 deficiency, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CA12<\/td>603263<\/td>Hyperchlorhidrosis, isolated<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CA2<\/td>611492<\/td>Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CA5A<\/td>114761<\/td>Hyperammonemia due to carbonic anhydrase VA deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CA8<\/td>114815<\/td>Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CABP2<\/td>607314<\/td>Deafness, autosomal recessive, type 93<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CABP4<\/td>608965<\/td>Congenital stationary night blindness, type 2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CACNA1D<\/td>114206<\/td>Sinoatrial node dysfunction and deafness<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CACNA2D4<\/td>608171<\/td>Retinal cone dystrophy 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CAD<\/td>114010<\/td>Epileptic encephalopathy, early infantile, 50<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CALCRL<\/td>114190<\/td>?Lymphatic malformation 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CANT1<\/td>613165<\/td>Desbuquois dysplasia, type 1; Epiphyseal dysplasia, multiple, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CAPN1<\/td>114220<\/td>Spastic paraplegia, type 76, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CAPN3<\/td>114240<\/td>Limb-girdle muscular dystrophy, type 1 (LGMD R1)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>CARD11<\/td>607210<\/td>Immunodeficiency, type 11A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>CARD9<\/td>607212<\/td>Candidiasis, familial, type 2, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>CARS2<\/td>612800<\/td>Combined oxidative phosphorylation deficiency 27<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CASQ2<\/td>114251<\/td>Ventricular tachycardia, catecholaminergic polymorphic, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CASR<\/td>601199<\/td>Hyperparathyroidism, neonatal<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        5<\/td>CAST<\/td>114090<\/td>Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CAT<\/td>115500<\/td>Acatalasemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CATSPER1<\/td>606389<\/td>Spermatogenic failure, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CAVIN1<\/td>603198<\/td>Lipodystrophy, congenital generalized, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CBLIF<\/td>609342<\/td>Intrinsic factor deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>CBS<\/td>613381<\/td>Homocystinuria due to cystathionine beta-synthase<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CC2D1A<\/td>610055<\/td>Mental retardation, autosomal recessive, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CC2D2A<\/td>612013<\/td>Joubert syndrome, type 9; Meckel syndrome, type 6; COACH syndrome, 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>CCBE1<\/td>612753<\/td>Hennekam lymphangiectasia-lymphedema syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CCDC103<\/td>614677<\/td>Ciliary dyskinesia, primary, type 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CCDC115<\/td>613734<\/td>Congenital disorder of glycosylation, type IIo<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CCDC174<\/td>616735<\/td>Hypotonia, infantile, with psychomotor retardation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CCDC39<\/td>613798<\/td>Ciliary dyskinesia, primary, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CCDC40<\/td>613799<\/td>Ciliary dyskinesia, primary, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CCDC65<\/td>611088<\/td>Ciliary dyskinesia, primary, type 27<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CCDC8<\/td>614145<\/td>3M syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>CCDC88C<\/td>611204<\/td>Hydrocephalus, congenital, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>CCN6<\/td>603400<\/td>Progressive pseudorheumatoid dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>CCNO<\/td>607752<\/td>Ciliary dyskinesia, primary, type 29<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CD19<\/td>107265<\/td>Immunodeficiency, common variable, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CD247<\/td>186780<\/td>?Immunodeficiency, type 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CD27<\/td>186711<\/td>Lymphoproliferative syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>CD2AP<\/td>604241<\/td>Glomerulosclerosis, focal segmental, type 3, susceptibility to<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        19<\/td>CD320<\/td>606475<\/td>Methylmalonic aciduria, transient, due to transcobalamin receptor defect<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>CD36<\/td>173510<\/td>Platelet glycoprotein 4 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CD3D<\/td>186790<\/td>Immunodeficiency, type 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CD3E<\/td>186830<\/td>Immunodeficiency, type 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CD3G<\/td>186740<\/td>Immunodeficiency, type 17, CD3 gamma deficient<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>CD40<\/td>109535<\/td>Immunodeficiency with hyper-IgM, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>CD40LG<\/td>300386<\/td>Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>CD55<\/td>125240<\/td>Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CD59<\/td>107271<\/td>CD59 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CD79A<\/td>112205<\/td>Agammaglobulinemia 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CD79B<\/td>147245<\/td>Agammaglobulinemia 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CD81<\/td>186845<\/td>Immunodeficiency, common variable, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CD8A<\/td>186910<\/td>CD8 deficiency, familial<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CDAN1<\/td>607465<\/td>Dyserythropoietic anemia, congenital, type 1A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CDC14A<\/td>603504<\/td>Deafness, autosomal recessive, type 105<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>CDC45<\/td>603465<\/td>Meier-Gorlin syndrome 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CDCA7<\/td>609937<\/td>Immunodeficiency-centromeric instability-facial anomalies syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CDH11<\/td>600023<\/td>Elsahy-Waters syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CDH23<\/td>605516<\/td>Deafness, autosomal recessive, type 12; Usher syndrome, type 1D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CDH3<\/td>114021<\/td>Ectodermal dysplasia, ectrodactyly, and macular dystrophy; Hypotrichosis, congenital, with juvenile macular dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CDHR1<\/td>609502<\/td>Cone-rod dystrophy, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CDIN1<\/td>615626<\/td>Dyserythropoietic anemia, congenital, type Ib<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CDK10<\/td>603464<\/td>Al Kaissi syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>CDK5RAP2<\/td>608201<\/td>Primary microcephaly type 3, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>CDSN<\/td>602593<\/td>Peeling skin syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CDT1<\/td>605525<\/td>Meier-Gorlin syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>CEBPE<\/td>600749<\/td>Specific granule deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CENPF<\/td>600236<\/td>Stromme syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>CENPJ<\/td>609279<\/td>Primary microcephaly type 6, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CEP104<\/td>616690<\/td>Joubert syndrome 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>CEP120<\/td>613446<\/td>Short-rib thoracic dysplasia 13 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CEP135<\/td>611423<\/td>Microcephaly 8, primary, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CEP152<\/td>613529<\/td>Primary microcephaly type 9, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CEP164<\/td>614848<\/td>Nephronophthisis 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CEP19<\/td>615586<\/td>Morbid obesity and spermatogenic failure<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CEP290<\/td>610142<\/td>Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>CEP41<\/td>610523<\/td>Joubert syndrome, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CEP55<\/td>610000<\/td>Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CEP57<\/td>607951<\/td>Mosaic variegated aneuploidy syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>CEP78<\/td>617110<\/td>Cone-rod dystrophy and hearing loss<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CEP83<\/td>615847<\/td>Nephronophthisis 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CERKL<\/td>608381<\/td>Retinitis pigmentosa, type 26<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CERS3<\/td>615276<\/td>Ichthyosis, congenital, autosomal recessive 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CFAP418<\/td>614477<\/td>Bardet-Biedl syndrome, type 21; Cone-rod dystrophy 16 and Retintis pigmentosa 64; Ciliary dyskinesia, primary, 26<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CFAP43<\/td>617558<\/td>Spermatogenic failure, type 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>CFAP53<\/td>614759<\/td>Heterotaxy, visceral, 6, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CFD<\/td>134350<\/td>Complement factor D deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CFH<\/td>134370<\/td>Complement factor H deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CFI<\/td>217030<\/td>Complement factor I deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>CFL2<\/td>601443<\/td>Nemaline myopathy, type 7, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>CFTR<\/td>602421<\/td>Cystic fibrosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CHAT<\/td>118490<\/td>Myasthenic syndrome, congenital, type 6, presynaptic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>CHKB<\/td>612395<\/td>Muscular dystrophy, congenital, megaconial type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>CHM<\/td>300390<\/td>Choroideremia<\/td>X-linked<\/td>\n<\/tr>\n
        16<\/td>CHMP1A<\/td>164010<\/td>Pontocerebellar hypoplasia, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CHRNA1<\/td>100690<\/td>Multiple pterygium syndrome, lethal type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CHRNB1<\/td>100710<\/td>?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CHRND<\/td>100720<\/td>Myasthenic syndrome, congenital, type 3B, fast-channel; Multiple pterygium syndrome, lethal type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CHRNE<\/td>100725<\/td>Myasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CHRNG<\/td>100730<\/td>Multiple pterygium syndrome (MPS), Escobar type; MPS, lethal type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CHST14<\/td>608429<\/td>Ehlers-Danlos syndrome, musculocontractural, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CHST3<\/td>603799<\/td>Spondyloepiphyseal dysplasia with congenital joint dislocations<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CHST6<\/td>605294<\/td>Macular corneal dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CHSY1<\/td>608183<\/td>Temtamy preaxial brachydactyly syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CHUK<\/td>600664<\/td>Cocoon syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CIB2<\/td>605564<\/td>Deafness, autosomal recessive, type 48; Usher syndrome, type 1J<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CIITA<\/td>600005<\/td>Bare lymphocyte syndrome, type 2, complementation group A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>CILK1<\/td>612325<\/td>Endocrine-cerebroosteodysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CISD2<\/td>611507<\/td>Wolfram syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CIT<\/td>605629<\/td>Microcephaly 17, primary, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CKAP2L<\/td>616174<\/td>Filippi syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CLCF1<\/td>607672<\/td>Cold-induced sweating syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>CLCN1<\/td>118425<\/td>Myotonia congenita, recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CLCN2<\/td>600570<\/td>Leukoencephalopathy with ataxia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CLCN7<\/td>602727<\/td>Osteopetrosis, autosomal recessive type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CLCNKA<\/td>602024<\/td>Bartter syndrome, type 4B, digenic<\/td>Digenic inheritance (CLCNKB gene)<\/td>\n<\/tr>\n
        1<\/td>CLCNKB<\/td>602023<\/td>Bartter syndrome, type 3; Bartter syndrome, type 4B, digenic<\/td>Autosomal recessive; Digenic inheritance (CLCNKA gene)<\/td>\n<\/tr>\n
        3<\/td>CLDN1<\/td>603718<\/td>Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>CLDN10<\/td>617579<\/td>HELIX syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>CLDN14<\/td>605608<\/td>Deafness type 29, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CLDN16<\/td>603959<\/td>Hypomagnesemia, type 3, renal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CLDN19<\/td>610036<\/td>Rena hypomagnesemia type 5, with ocular involvement<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CLMP<\/td>611693<\/td>Congenital short bowel syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CLN3<\/td>607042<\/td>Ceroid lipofuscinosis, neuronal, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>CLN5<\/td>608102<\/td>Ceroid lipofuscinosis, neuronal, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CLN6<\/td>606725<\/td>Ceroid lipofuscinosis, neuronal, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CLN8<\/td>607837<\/td>Ceroid lipofuscinosis, neuronal, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CLP1<\/td>608757<\/td>Pontocerebellar hypoplasia, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CLPB<\/td>616254<\/td>3-methylglutaconic aciduria, type 7, with cataracts, neurologic involvement and neutropenia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CLPP<\/td>601119<\/td>Perrault syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CLRN1<\/td>606397<\/td>Usher syndrome, type 3A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CNGA1<\/td>123825<\/td>Retinitis pigmentosa type 49<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CNGA3<\/td>600053<\/td>Achromatopsia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CNGB1<\/td>600724<\/td>Retinitis pigmentosa type 45<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CNGB3<\/td>605080<\/td>Achromatopsia, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CNNM2<\/td>607803<\/td>Hypomagnesemia, seizures, and mental retardation<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        2<\/td>CNNM4<\/td>607805<\/td>Jalili syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>CNPY3<\/td>610774<\/td>Epileptic encephalopathy, early infantile, type 60<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CNTNAP1<\/td>602346<\/td>Lethal congenital contracture syndrome 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>CNTNAP2<\/td>604569<\/td>Pitt-Hopkins like syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>COA6<\/td>614772<\/td>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>COA8<\/td>616003<\/td>Mitochondrial complex IV deficiency, nuclear type 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>COASY<\/td>609855<\/td>Neurodegeneration with brain iron accumulation 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>COG1<\/td>606973<\/td>Congenital disorder of glycosylation, type IIg<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>COG4<\/td>606976<\/td>Congenital disorder of glycosylation, type 2J<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>COG5<\/td>606821<\/td>Congenital disorder of glycosylation, type 2I<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>COG6<\/td>606977<\/td>Congenital disorder of glycosylation, type 2L; Shaheen syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>COG7<\/td>606978<\/td>Congenital disorder of glycosylation, type 2E<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>COG8<\/td>606979<\/td>Congenital disorder of glycosylation, type 2H<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>COL11A1<\/td>120280<\/td>Fibrochondrogenesis type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>COL11A2<\/td>120290<\/td>Otospondylomegaepiphyseal dysplasia, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>COL13A1<\/td>120350<\/td>Myasthenic syndrome, congenital, 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>COL17A1<\/td>113811<\/td>Epidermolysis bullosa, junctional, non-Herlitz type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>COL18A1<\/td>120328<\/td>Knobloch syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>COL1A2<\/td>120160<\/td>Ehlers-Danlos syndrome, cardiac valvular type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>COL25A1<\/td>610004<\/td>Fibrosis of extraocular muscles, congenital, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>COL27A1<\/td>608461<\/td>Steel syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>COL4A3<\/td>120070<\/td>Alport syndrome, autosomal recessive, type 2<\/td>Autosomal recessive; Autosomal dominant<\/td>\n<\/tr>\n
        2<\/td>COL4A4<\/td>120131<\/td>Alport syndrome, autosomal recessive, type 2<\/td>Autosomal recessive; Autosomal dominant<\/td>\n<\/tr>\n
        X<\/td>COL4A5<\/td>303630<\/td>Alport syndrome, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        21<\/td>COL6A1<\/td>120220<\/td>Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        21<\/td>COL6A2<\/td>120240<\/td>Ullrich congenital muscular dystrophy 1; Bethlem myopathy-1; Myosclerosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>COL6A3<\/td>120250<\/td>Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27<\/td>Autosomal recessive*;Autosomal recessive*;Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>COL7A1<\/td>120120<\/td>Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibial<\/td>Autosomal recessive; Autosomal recessive*; Autosomal recessive*<\/td>\n<\/tr>\n
        6<\/td>COL9A1<\/td>120210<\/td>Stickler syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>COL9A2<\/td>120260<\/td>?Stickler syndrome, type V<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>COLEC10<\/td>607620<\/td>3MC syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>COLEC11<\/td>612502<\/td>3MC syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>COLQ<\/td>603033<\/td>Myasthenic syndrome, congenital, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>COQ2<\/td>609825<\/td>Primary coenzyme Q10 deficiency, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>COQ4<\/td>612898<\/td>Coenzyme Q10 deficiency, primary, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>COQ6<\/td>614647<\/td>Coenzyme Q10 deficiency, primary, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>COQ8A<\/td>606980<\/td>Primary coenzyme Q10 deficiency, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>COQ8B<\/td>615567<\/td>Nephrotic syndrome, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>COQ9<\/td>612837<\/td>Coenzyme Q10 deficiency, primary, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CORO1A<\/td>605000<\/td>Immunodeficiency, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>COX10<\/td>602125<\/td>Mitochondrial complex IV deficiency, nuclear type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>COX15<\/td>603646<\/td>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>COX20<\/td>614698<\/td>Mitochondrial complex IV deficiency, nuclear type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>COX6B1<\/td>124089<\/td>Mitochondrial complex IV deficiency, nuclear type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CP<\/td>117700<\/td>Aceruloplasminemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CPA6<\/td>609562<\/td>Febrile seizures, familial, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CPAMD8<\/td>608841<\/td>Anterior segment dysgenesis, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>CPLANE1<\/td>614571<\/td>Joubert syndrome 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CPLX1<\/td>605032<\/td>Epileptic encephalopathy, early infantile, 63<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CPS1<\/td>608307<\/td>Carbamoylphosphate synthetase 1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CPT1A<\/td>600528<\/td>Carnitine palmitoyltransferase type 1A deficiency, hepatic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CPT2<\/td>600650<\/td>Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CR2<\/td>120650<\/td>Immunodeficiency, common variable, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CRADD<\/td>603454<\/td>Mental retardation, autosomal recessive, type 34, with variant lissencephaly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CRB1<\/td>604210<\/td>Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>CRB2<\/td>609720<\/td>Ventriculomegaly with cystic kidney disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CRBN<\/td>609262<\/td>Mental retardation, autosomal recessive, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CRIPT<\/td>604594<\/td>Short stature with microcephaly and distinctive facies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CRLF1<\/td>604237<\/td>Cold-induced sweating syndrome type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>CRPPA<\/td>614631<\/td>Muscular dystrophy-dystroglycanopathy, type A7; Muscular dystrophy-dystroglycanopathy, type C7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CRTAP<\/td>605497<\/td>Osteogenesis imperfecta, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>CRYAA<\/td>123580<\/td>Cataract 9, multiple types<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        11<\/td>CRYAB<\/td>123590<\/td>Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Cataract 16, multiple types<\/td>Autosomal recessive; Autosomal recessive*<\/td>\n<\/tr>\n
        22<\/td>CRYBB1<\/td>600929<\/td>Cataract 17<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        22<\/td>CRYBB3<\/td>123630<\/td>Cataract 22<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>CSF2RB<\/td>138981<\/td>Surfactant metabolism dysfunction, pulmonary, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CSF3R<\/td>138971<\/td>Neutropenia, severe congenital, type 7, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CSPP1<\/td>611654<\/td>Joubert syndrome 21<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>CSTA<\/td>184600<\/td>Peeling skin syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>CSTB<\/td>601145<\/td>Epilepsy, progressive myoclonic type 1A (Unverricht and Lundborg)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CTC1<\/td>613129<\/td>Cerebroretinal microangiopathy with calcifications and cysts<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CTH<\/td>607657<\/td>Cystathioninuria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>CTNS<\/td>606272<\/td>Nephropathic cystinosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CTPS1<\/td>123860<\/td>Immunodeficiency, type 24<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>CTSA<\/td>613111<\/td>Galactosialidosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CTSC<\/td>602365<\/td>Haim-Munk syndrome; Papillon-Lefevre syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CTSD<\/td>116840<\/td>Ceroid lipofuscinosis, neuronal, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CTSF<\/td>603539<\/td>Ceroid lipofuscinosis, neuronal, type 13 (Kufs type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>CTSK<\/td>601105<\/td>Pycnodysostosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CUBN<\/td>602997<\/td>Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>CUL4B<\/td>300304<\/td>Mental retardation, X-linked, syndromic, type 15 (Cabezas type)<\/td>X-linked<\/td>\n<\/tr>\n
        6<\/td>CUL7<\/td>609577<\/td>3M syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>CWC27<\/td>617170<\/td>Retinitis pigmentosa with or without skeletal anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CWF19L1<\/td>616120<\/td>Spinocerebellar ataxia, autosomal recessive, type 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>CYB5A<\/td>613218<\/td>46,XY disorder of sex development due to isolated 17,20-lyase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>CYB5R3<\/td>613213<\/td>Methemoglobinemia, type 1; Methemoglobinemia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>CYBA<\/td>608508<\/td>Chronic granulomatous disease, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>CYBB<\/td>300481<\/td>Chronic granulomatous disease, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        8<\/td>CYC1<\/td>123980<\/td>Mitochondrial complex III deficiency, nuclear type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CYP11A1<\/td>118485<\/td>46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CYP11B1<\/td>610613<\/td>Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CYP11B2<\/td>124080<\/td>Hypoaldosteronism, congenital, due to CMO I deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CYP17A1<\/td>609300<\/td>17 alpha(?)-hydroxylase\/17,20-lyase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>CYP19A1<\/td>107910<\/td>Aromatase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CYP1B1<\/td>601771<\/td>Glaucoma, primary congenital, type 3A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>CYP21A2<\/td>613815<\/td>Congenital adrenal hyperplasia due to 21-hydroxylase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>CYP24A1<\/td>126065<\/td>Hypercalcemia, infantile, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>CYP26B1<\/td>605207<\/td>Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>CYP26C1<\/td>608428<\/td>Focal facial dermal dysplasia 4<\/td>digenic inheritance (CLCNKB gene)<\/td>\n<\/tr>\n
        2<\/td>CYP27A1<\/td>606530<\/td>Cerebrotendinous xanthomatosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>CYP27B1<\/td>609506<\/td>Vitamin D-dependent rickets, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>CYP2R1<\/td>608713<\/td>Rickets due to defect in vitamin D 25-hydroxylation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CYP2U1<\/td>610670<\/td>Spastic paraplegia, type 56, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>CYP4F22<\/td>611495<\/td>Ichthyosis, congenital, autosomal recessive, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>CYP4V2<\/td>608614<\/td>Bietti crystalline corneoretinal dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>CYP7B1<\/td>603711<\/td>Spastic paraplegia, type 5A, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>D2HGDH<\/td>609186<\/td>D-2-hydroxyglutaric aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>DAG1<\/td>128239<\/td>Muscular dystrophy-dystroglycanopathy type A9; Muscular dystrophy-dystroglycanopathy type C9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DARS1<\/td>603084<\/td>Hypomyelination with brainstem and spinal cord involvement and leg spasticity<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DARS2<\/td>610956<\/td>Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>DBH<\/td>609312<\/td>Dopamine beta-hydroxylase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DBT<\/td>248610<\/td>Maple syrup urine disease, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DCAF17<\/td>612515<\/td>Woodhouse-Sakati syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>DCC<\/td>120470<\/td>Gaze palsy, familial horizontal, with progressive scoliosis, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>DCDC2<\/td>605755<\/td>Sclerosing cholangitis, neonatal; Nephronophthisis 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>DCHS1<\/td>603057<\/td>Van Maldergem syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>DCLRE1C<\/td>605988<\/td>Omenn syndrome; Severe combined immunodeficiency, Athabascan type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>DCPS<\/td>610534<\/td>Al-Raqad syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>DCX<\/td>300121<\/td>Lissencephaly, X-linked, type 1<\/td>X-linked<\/td>\n<\/tr>\n
        11<\/td>DDB2<\/td>600811<\/td>Xeroderma pigmentosum, complementation group E<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>DDC<\/td>107930<\/td>Aromatic L-amino acid decarboxylase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>DDHD1<\/td>614603<\/td>Spastic paraplegia, type 28, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>DDHD2<\/td>615003<\/td>Spastic paraplegia, type 54, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DDR2<\/td>191311<\/td>Spondylometaepiphyseal dysplasia, short limb-hand type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>DDRGK1<\/td>616177<\/td>Spondyloepimetaphyseal dysplasia, Shohat type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>DDX11<\/td>601150<\/td>Warsaw breakage syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DDX59<\/td>615464<\/td>Orofaciodigital syndrome V<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>DENND5A<\/td>617278<\/td>Epileptic encephalopathy, early infantile, 49<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DES<\/td>125660<\/td>Myopathy, myofibrillar, type 1<\/td>Autosomal recessive*; Autosomal dominant<\/td>\n<\/tr>\n
        8<\/td>DGAT1<\/td>604900<\/td>?Diarrhea 7, protein-losing enteropathy type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>DGKE<\/td>601440<\/td>Nephrotic syndrome, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DGUOK<\/td>601465<\/td>DGUOK-related mitochondrial DNA depletion syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DHCR24<\/td>606418<\/td>Desmosterolosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>DHCR7<\/td>602858<\/td>Smith-Lemli-Opitz syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DHDDS<\/td>608172<\/td>Retinitis pigmentosa, type 59<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>DHFR<\/td>126060<\/td>Megaloblastic anemia due to dihydrofolate reductase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>DHH<\/td>605423<\/td>46,XY complete gonadal dysgenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>DHODH<\/td>126064<\/td>Miller syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>DHPS<\/td>600944<\/td>Neurodevelopmental disorder with seizures and speech and walking impairment<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>DHTKD1<\/td>614984<\/td>2-aminoadipic 2-oxoadipic aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>DIAPH1<\/td>602121<\/td>Seizures, cortical blindness, microcephaly syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DIS3L2<\/td>614184<\/td>Perlman syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>DKC1<\/td>300126<\/td>Dyskeratosis congenita, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        11<\/td>DLAT<\/td>608770<\/td>Pyruvate dehydrogenase E2 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>DLD<\/td>238331<\/td>Dihydrolipoamide dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>DLG3<\/td>300189<\/td>Mental retardation, X-linked, type 90<\/td>X-linked<\/td>\n<\/tr>\n
        19<\/td>DLL3<\/td>602768<\/td>Spondylocostal dysostosis type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>DMD<\/td>300377<\/td>DMD-related conditions<\/td>X-linked<\/td>\n<\/tr>\n
        5<\/td>DMGDH<\/td>605849<\/td>Dimethylglycine dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>DMP1<\/td>600980<\/td>Hypophosphatemic rickets, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>DMXL2<\/td>612186<\/td>Developmental and epileptic encephalopathy, type 81<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>DNAAF1<\/td>613190<\/td>Ciliary dyskinesia, primary, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>DNAAF11<\/td>614930<\/td>Ciliary dyskinesia, primary, type 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>DNAAF2<\/td>612517<\/td>Ciliary dyskinesia, primary, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>DNAAF3<\/td>614566<\/td>Ciliary dyskinesia, primary, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>DNAAF4<\/td>608706<\/td>Ciliary dyskinesia, primary, type 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>DNAAF5<\/td>614864<\/td>Ciliary dyskinesia, primary, type 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>DNAH1<\/td>603332<\/td>Spermatogenic failure, type 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>DNAH11<\/td>603339<\/td>Ciliary dyskinesia, primary, type 7, with or without situs inversus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>DNAH5<\/td>603335<\/td>Ciliary dyskinesia, primary, type 3, with or without situs inversus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>DNAH9<\/td>603330<\/td>Ciliary dyskinesia, primary, type 40<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>DNAI1<\/td>604366<\/td>Ciliary dyskinesia, primary, type 1, with or without situs inversus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>DNAI2<\/td>605483<\/td>Ciliary dyskinesia, primary, type 9, with or without situs inversus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>DNAJB13<\/td>610263<\/td>Ciliary dyskinesia, primary, type 34<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DNAJB2<\/td>604139<\/td>Spinal muscular atrophy, distal, autosomal recessive, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>DNAJC12<\/td>606060<\/td>Hyperphenylalaninemia, mild, non-BH4-deficient<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>DNAJC19<\/td>608977<\/td>3-methylglutaconic aciduria, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>DNAJC21<\/td>617048<\/td>Bone marrow failure syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DNAJC6<\/td>608375<\/td>Parkinson disease, type 19A, juvenile-onset; Parkinson disease, type 19B, early-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>DNAL1<\/td>610062<\/td>Ciliary dyskinesia, primary, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>DNASE1L3<\/td>602244<\/td>Systemic lupus erythematosus 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>DNM1L<\/td>603850<\/td>Encephalopathy due to defective mitochondrial and peroxisomal fission, type 1<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        19<\/td>DNM2<\/td>602378<\/td>Lethal congenital contracture syndrome, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>DNMT3B<\/td>602900<\/td>Immunodeficiency-centromeric instability-facial anomalies syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>DOCK2<\/td>603122<\/td>Immunodeficiency, type 40<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>DOCK6<\/td>614194<\/td>Adams-Oliver syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DOCK7<\/td>615730<\/td>Epileptic encephalopathy, early infantile, 23<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>DOCK8<\/td>611432<\/td>Hyper-IgE recurrent infection syndrome, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>DOK7<\/td>610285<\/td>Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>DOLK<\/td>610746<\/td>Congenital disorder of glycosylation, type 1M<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>DONSON<\/td>611428<\/td>Microcephaly, short stature, and limb abnormalities<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>DPAGT1<\/td>191350<\/td>Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>DPH1<\/td>603527<\/td>Developmental delay with short stature, dysmorphic features, and sparse hair<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>DPM1<\/td>603503<\/td>Congenital disorder of glycosylation, type 1E<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>DPM2<\/td>603564<\/td>Congenital disorder of glycosylation, type Iu<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DPM3<\/td>605951<\/td>Congenital disorder of glycosylation, type Io<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>DPY19L2<\/td>613893<\/td>Spermatogenic failure, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DPYD<\/td>612779<\/td>Dihydropyrimidine dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>DPYS<\/td>613326<\/td>Dihydropyrimidinuria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DRAM2<\/td>613360<\/td>Cone-rod dystrophy 21<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DRC1<\/td>615288<\/td>Ciliary dyskinesia, primary, type 21<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>DSG1<\/td>125670<\/td>Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>DSG4<\/td>607892<\/td>Hypotrichosis, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>DSP<\/td>125647<\/td>Cardiomyopathy, dilated, with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>DST<\/td>113810<\/td>Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>DSTYK<\/td>612666<\/td>Spastic paraplegia, type 23, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>DTNBP1<\/td>607145<\/td>Hermansky-Pudlak syndrome, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>DUOX2<\/td>606759<\/td>Thyroid dyshormonogenesis, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>DUOXA2<\/td>612772<\/td>Thyroid dyshormonogenesis, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>DYM<\/td>607461<\/td>Smith-McCort dysplasia; Dyggve-Melchior-Clausen disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>DYNC2H1<\/td>603297<\/td>Short-rib thoracic dysplasia, type 3, with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>DYNC2I1<\/td>615462<\/td>Short-rib thoracic dysplasia 8 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>DYNC2I2<\/td>613363<\/td>Short-rib thoracic dysplasia 11 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DYNC2LI1<\/td>617083<\/td>Short-rib thoracic dysplasia 15 with polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>DYNLT2B<\/td>617353<\/td>Short-rib thoracic dysplasia 17 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>DYSF<\/td>603009<\/td>Miyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>DZIP1L<\/td>617570<\/td>Polycystic kidney disease 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>EARS2<\/td>612799<\/td>Combined oxidative phosphorylation deficiency 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ECEL1<\/td>605896<\/td>Arthrogryposis, distal, type 5D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ECHS1<\/td>602292<\/td>Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ECM1<\/td>602201<\/td>Urbach-Wiethe disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>EDA<\/td>300451<\/td>Ectodermal dysplasia, type 1, hypohidrotic, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        2<\/td>EDAR<\/td>604095<\/td>Ectodermal dysplasia 10B, hypohidrotic\/hair\/tooth type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>EDARADD<\/td>606603<\/td>Ectodermal dysplasia 11B, hypohidrotic\/hair\/tooth type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>EDN1<\/td>131240<\/td>Auriculocondylar syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>EDN3<\/td>131242<\/td>Waardenburg syndrome, type 4B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>EDNRB<\/td>131244<\/td>ABCD syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>EFEMP2<\/td>604633<\/td>Cutis laxa, autosomal recessive, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>EFL1<\/td>617538<\/td>Shwachman-Diamond syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>EGFR<\/td>131550<\/td>?Inflammatory skin and bowel disease, neonatal, 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>EGR2<\/td>129010<\/td>Dejerine-Sottas disease<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        2<\/td>EIF2AK3<\/td>604032<\/td>Wolcott-Rallison syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>EIF2AK4<\/td>609280<\/td>Pulmonary venoocclusive disease 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>EIF2B1<\/td>606686<\/td>Leukoencephalopathy with vanishing white matter (VWM)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>EIF2B2<\/td>606454<\/td>Leukoencephalopathy with vanishing white matter (VWM)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>EIF2B3<\/td>606273<\/td>Leukoencephalopathy with vanishing white matter (VWM)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>EIF2B4<\/td>606687<\/td>Leukoencephalopathy with vanishing white matter (VWM)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>EIF2B5<\/td>603945<\/td>Leukoencephalopathy with vanishing white matter (VWM)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>EIF4A3<\/td>608546<\/td>Robin sequence with cleft mandible and limb anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ELAC2<\/td>605367<\/td>Combined oxidative phosphorylation deficiency 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>ELMO2<\/td>606421<\/td>Vascular malformation, primary intraosseous<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>ELOVL4<\/td>605512<\/td>Ichthyosis, spastic quadriplegia, and mental retardation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ELP1<\/td>603722<\/td>Familial dysautonomia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>ELP2<\/td>616054<\/td>Mental retardation, autosomal recessive, type 58<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>EMC1<\/td>616846<\/td>Cerebellar atrophy, visual impairment, and psychomotor retardation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>EMD<\/td>300384<\/td>Emery-Dreifuss muscular dystrophy, type 1, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        14<\/td>EML1<\/td>602033<\/td>Band heterotopia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>EMP2<\/td>602334<\/td>Nephrotic syndrome, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>ENAM<\/td>606585<\/td>Amelogenesis imperfecta, type 1C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ENO3<\/td>131370<\/td>?Glycogen storage disease XIII<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>ENPP1<\/td>173335<\/td>Arterial calcification, generalized, of infancy, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ENTPD1<\/td>601752<\/td>Spastic paraplegia, type 64, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>EOGT<\/td>614789<\/td>Adams-Oliver syndrome 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>EPB41<\/td>130500<\/td>Elliptocytosis, type 1<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        15<\/td>EPB42<\/td>177070<\/td>Spherocytosis, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>EPCAM<\/td>185535<\/td>EPCAM-related conditions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>EPG5<\/td>615068<\/td>Vici syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>EPM2A<\/td>607566<\/td>Epilepsy, progressive myoclonic, type 2A (Lafora)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>EPRS1<\/td>138295<\/td>Leukodystrophy, hypomyelinating, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>EPS8L2<\/td>614988<\/td>Deafness autosomal recessive, type 106<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ERAL1<\/td>607435<\/td>Perrault syndrome 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>ERBB3<\/td>190151<\/td>Lethal congenital contractural syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ERCC1<\/td>126380<\/td>Cerebrooculofacioskeletal syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ERCC2<\/td>126340<\/td>Trichothiodystrophy, type 1; Xeroderma pigmentosum, group D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ERCC3<\/td>133510<\/td>Trichothiodystrophy, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ERCC4<\/td>133520<\/td>Fanconi anemia, complementation group Q<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>ERCC5<\/td>133530<\/td>Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosum, group G;Xeroderma pigmentosum, group G\/Cockayne syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ERCC6<\/td>609413<\/td>Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ERCC6L2<\/td>615667<\/td>Bone marrow failure syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>ERCC8<\/td>609412<\/td>Cockayne syndrome, type A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ERLIN1<\/td>611604<\/td>Spastic paraplegia, type 62, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>ERLIN2<\/td>611605<\/td>Spastic paraplegia, type 18, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>ESCO2<\/td>609353<\/td>Roberts syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ESPN<\/td>606351<\/td>Deafness, autosomal recessive, type 36<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>ESR1<\/td>133430<\/td>Estrogen resistance<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>ESRRB<\/td>602167<\/td>Deafness, autosomal recessive, type 35<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>ETFA<\/td>608053<\/td>Glutaric acidemia, type 2A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ETFB<\/td>130410<\/td>Glutaric acidemia, type 2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>ETFDH<\/td>231675<\/td>Glutaric acidemia, type 2C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ETHE1<\/td>608451<\/td>Ethylmalonic encephalopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>EVC<\/td>604831<\/td>Ellis-van Creveld syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>EVC2<\/td>607261<\/td>Ellis-van Creveld syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>EXOSC3<\/td>606489<\/td>Pontocerebellar hypoplasia, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>EXPH5<\/td>612878<\/td>Epidermolysis bullosa, nonspecific, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>EXTL3<\/td>605744<\/td>Immunoskeletal dysplasia with neurodevelopmental abnormalities<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>EYS<\/td>612424<\/td>Retinitis pigmentosa, type 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>F10<\/td>613872<\/td>Factor X deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>F11<\/td>264900<\/td>Factor XI deficiency<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        6<\/td>F13A1<\/td>134570<\/td>Factor XIIIA deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>F13B<\/td>134580<\/td>Factor XIIIB deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>F2<\/td>176930<\/td>Prothrombin deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>F5<\/td>612309<\/td>Factor V deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>F7<\/td>613878<\/td>Factor VII deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>F8<\/td>300841<\/td>Hemophilia A<\/td>X-linked<\/td>\n<\/tr>\n
        X<\/td>F9<\/td>300746<\/td>Hemophilia B<\/td>X-linked<\/td>\n<\/tr>\n
        16<\/td>FA2H<\/td>611026<\/td>Spastic paraplegia, type 35, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FADD<\/td>602457<\/td>Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>FAH<\/td>613871<\/td>Tyrosinemia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>FAM161A<\/td>613596<\/td>Retinitis pigmentosa, type 28<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>FAM20A<\/td>611062<\/td>Amelogenesis imperfecta, type 1G (Enamel-renal syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>FAM20C<\/td>611061<\/td>Raine syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>FAN1<\/td>613534<\/td>Interstitial nephritis, karyomegalic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>FANCA<\/td>607139<\/td>Fanconi anemia, complementation group A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FANCC<\/td>613899<\/td>Fanconi anemia, complementation group C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>FANCD2<\/td>613984<\/td>Fanconi anemia, complementation group D2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>FANCE<\/td>613976<\/td>Fanconi anemia, complementation group E<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FANCF<\/td>613897<\/td>Fanconi anemia, complementation group F<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FANCG<\/td>602956<\/td>Fanconi anemia, complementation group G<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>FANCI<\/td>611360<\/td>Fanconi anemia, complementation group I<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>FANCL<\/td>608111<\/td>Fanconi anemia, complementation group L<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>FANCM<\/td>609644<\/td>Spermatogenic failure, type 28; ?Premature ovarian failure 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FAR1<\/td>616107<\/td>Peroxisomal fatty acyl-CoA reductase 1 disorder<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>FARS2<\/td>611592<\/td>Combined oxidative phosphorylation deficiency 14; Spastic paraplegia, type 77, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>FASTKD2<\/td>612322<\/td>Combined oxidative phosphorylation deficiency 44<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>FAT4<\/td>612411<\/td>Hennekam lymphangiectasia-lymphedema syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>FBLN5<\/td>604580<\/td>Cutis laxa, autosomal recessive, type 1A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FBP1<\/td>611570<\/td>Fructose-1,6-bisphosphatase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>FBXL4<\/td>605654<\/td>Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>FBXO7<\/td>605648<\/td>Parkinson disease, type 15, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>FDXR<\/td>103270<\/td>Auditory neuropathy and optic atrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>FECH<\/td>612386<\/td>Protoporphyria, erythropoietic, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>FERMT1<\/td>607900<\/td>Kindler syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FERMT3<\/td>607901<\/td>Leukocyte adhesion deficiency, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>FEZF1<\/td>613301<\/td>Hypogonadotropic hypogonadism type 22, with or without anosmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>FGA<\/td>134820<\/td>Afibrinogenemia, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>FGB<\/td>134830<\/td>Congenital afibrinogenemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>FGD1<\/td>300546<\/td>Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16<\/td>X-linked<\/td>\n<\/tr>\n
        12<\/td>FGD4<\/td>611104<\/td>Charcot-Marie-Tooth disease, type 4H<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>FGF23<\/td>605380<\/td>Tumoral calcinosis, hyperphosphatemic, familial, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FGF3<\/td>164950<\/td>Deafness, congenital with inner ear agenesis, microtia, and microdontia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>FGG<\/td>134850<\/td>Afibrinogenemia, congenital; Hypofibrinogenemia, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>FH<\/td>136850<\/td>Fumarase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FIBP<\/td>608296<\/td>Thauvin-Robinet-Faivre syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>FIG4<\/td>609390<\/td>Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>FKBP10<\/td>607063<\/td>Bruck syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>FKBP14<\/td>614505<\/td>Ehlers-Danlos syndrome, kyphoscoliotic type, 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>FKRP<\/td>606596<\/td>Muscular dystrophy-dystroglycanopathy, type 5A (Walker-Warburg syndrome); Type 5B; Type 5C (limb-girdle muscular dystrophy, type 9 [LGMDR9])<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FKTN<\/td>607440<\/td>Muscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>FLAD1<\/td>610595<\/td>Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>FLG<\/td>135940<\/td>Ichthyosis vulgaris<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        11<\/td>FLI1<\/td>193067<\/td>Bleeding disorder, platelet-type, type 21<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        3<\/td>FLNB<\/td>603381<\/td>Spondylocarpotarsal synostosis syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>FLVCR1<\/td>609144<\/td>Posterior column ataxia-retinitis pigmentosa syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>FLVCR2<\/td>610865<\/td>Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>FMN2<\/td>606373<\/td>Mental retardation, autosomal recessive, type 47<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>FMO3<\/td>136132<\/td>Trimethylaminuria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>FMR1<\/td>309550<\/td>FMR1-related conditions<\/td>X-linked<\/td>\n<\/tr>\n
        11<\/td>FOLR1<\/td>136430<\/td>Neurodegeneration due to cerebral folate transport deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FOXE1<\/td>602617<\/td>Bamforth-Lazarus syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>FOXE3<\/td>601094<\/td>Anterior segment dysgenesis, type 2, multiple subtypes<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>FOXN1<\/td>600838<\/td>T-cell immunodeficiency, congenital alopecia and nail dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FOXRED1<\/td>613622<\/td>Mitochondrial complex I deficiency, nuclear type 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>FRAS1<\/td>607830<\/td>Fraser syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FREM1<\/td>608944<\/td>Manitoba oculotrichoanal syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>FREM2<\/td>608945<\/td>Fraser syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FRRS1L<\/td>604574<\/td>Epileptic encephalopathy, early infantile, 37<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>FSHB<\/td>136530<\/td>Hypogonadotropic hypogonadism, type 24, without anosmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>FSHR<\/td>136435<\/td>Ovarian dysgenesis 1;Ovarian hyperstimulation syndrome;Ovarian response to FSH stimulation<\/td>Autosomal recessive; Autosomal dominant; Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>FTCD<\/td>606806<\/td>Glutamate formiminotransferase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>FTL<\/td>134790<\/td>L-ferritin deficiency<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        16<\/td>FTO<\/td>610966<\/td>Growth retardation, developmental delay, facial dysmorphism<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>FTSJ1<\/td>300499<\/td>Mental retardation, X-linked 44<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>FUCA1<\/td>612280<\/td>Fucosidosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>FUT8<\/td>602589<\/td>Congenital disorder of glycosylation with defective fucosylation, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>FXN<\/td>606829<\/td>Friedreich ataxia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>FYCO1<\/td>607182<\/td>Cataract 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>FZD6<\/td>603409<\/td>Nail disorder, nonsyndromic congenital, type 10 (claw-shaped nails)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>G6PC1<\/td>613742<\/td>Glycogen storage disease, type 1A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>G6PC3<\/td>611045<\/td>Dursun syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>G6PD<\/td>305900<\/td>G6PD deficiency<\/td>X-linked<\/td>\n<\/tr>\n
        17<\/td>GAA<\/td>606800<\/td>Glycogen storage disease, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>GALC<\/td>606890<\/td>Krabbe disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>GALE<\/td>606953<\/td>Galactose epimerase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>GALK1<\/td>604313<\/td>Galactokinase deficiency with cataracts<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GALNS<\/td>612222<\/td>Mucopolysaccharidosis, type 4A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>GALNT3<\/td>601756<\/td>Tumoral calcinosis, hyperphosphatemic, familial, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GALT<\/td>606999<\/td>Galactosemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GAMT<\/td>601240<\/td>Cerebral creatine deficiency syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GAN<\/td>605379<\/td>Giant axonal neuropathy, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GAS8<\/td>605178<\/td>Ciliary dyskinesia, primary, type 33<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>GATM<\/td>602360<\/td>Cerebral creatine deficiency syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>GBA1<\/td>606463<\/td>Gaucher disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GBA2<\/td>609471<\/td>Spastic paraplegia, type 46, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GBE1<\/td>607839<\/td>Glycogen storage disease, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GCDH<\/td>608801<\/td>Glutaricaciduria, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>GCH1<\/td>600225<\/td>Hyperphenylalaninemia, BH4-deficient, type B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>GCK<\/td>138079<\/td>Permanent neonatal diabetes mellitus (PNDM)<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        6<\/td>GCM2<\/td>603716<\/td>Hypoparathyroidism, familial isolated (FIH) 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>GCNT2<\/td>600429<\/td>Cataract 13, with adult i phenotype<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GCSH<\/td>238330<\/td>Multiple mitochondrial dysfunctions syndrome 7\t<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>GDAP1<\/td>606598<\/td>Charcot-Marie-Tooth disease, recessive intermediate, type A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GDF1<\/td>602880<\/td>Right atrial isomerism (Ivemark syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>GDF5<\/td>601146<\/td>Chondrodysplasia, Grebe type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>GDF6<\/td>601147<\/td>Leber congenital amaurosis, type 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GFER<\/td>600924<\/td>Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GFM1<\/td>606639<\/td>Combined oxidative phosphorylation deficiency, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>GFPT1<\/td>138292<\/td>Myasthenia, congenital, type 12, with tubular aggregates<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>GGCX<\/td>137167<\/td>Vitamin K-dependent clotting factors, combined deficiency of, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>GH1<\/td>139250<\/td>Growth hormone deficiency, isolated, type 1A; Kowarski syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>GHR<\/td>600946<\/td>Laron dwarfism<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>GHRHR<\/td>139191<\/td>Growth hormone deficiency, isolated, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GHSR<\/td>601898<\/td>Growth hormone deficiency, isolated partial<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>GINS1<\/td>610608<\/td>Immunodeficiency, type 55<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GIPC3<\/td>608792<\/td>Deafness, autosomal recessive, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>GJA1<\/td>121014<\/td>Craniometaphyseal dysplasia, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>GJB1<\/td>304040<\/td>Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1<\/td>X-linked<\/td>\n<\/tr>\n
        13<\/td>GJB2<\/td>121011<\/td>Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2\/GJB6<\/td>Autosomal recessive; Digenic inheritance (GJB6 gene)<\/td>\n<\/tr>\n
        13<\/td>GJB6<\/td>604418<\/td>Deafness, autosomal recessive, type 1B; Deafness, digenic GJB2\/GJB6<\/td>Autosomal recessive; Digenic inheritance (GJB2 gene)<\/td>\n<\/tr>\n
        1<\/td>GJC2<\/td>608803<\/td>Spastic paraplegia, type 44, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>GLA<\/td>300644<\/td>Fabry disease<\/td>X-linked<\/td>\n<\/tr>\n
        3<\/td>GLB1<\/td>611458<\/td>GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GLDC<\/td>238300<\/td>Glycine encephalopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>GLDN<\/td>608603<\/td>Lethal congenital contracture syndrome 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GLE1<\/td>603371<\/td>Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GLIS2<\/td>608539<\/td>Nephronophthisis, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GLIS3<\/td>610192<\/td>Diabetes mellitus, neonatal, with congenital hypothyroidism<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>GLRA1<\/td>138491<\/td>Hyperekplexia, type 1<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        4<\/td>GLRB<\/td>138492<\/td>Hyperekplexia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>GLRX5<\/td>609588<\/td>Anemia, sideroblastic, type 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>GLUL<\/td>138290<\/td>Glutamine deficiency, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GLYCTK<\/td>610516<\/td>D-glyceric aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>GM2A<\/td>613109<\/td>GM2-gangliosidosis, AB variant<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>GMPPA<\/td>615495<\/td>Alacrima, achalasia, and mental retardation syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GMPPB<\/td>615320<\/td>Muscular dystrophy-dystroglycanopathy 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GNAT1<\/td>139330<\/td>Night blindness, congenital stationary, type 1G<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>GNAT2<\/td>139340<\/td>Achromatopsia, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>GNB5<\/td>604447<\/td>Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD\/cognitive impairment with or without cardiac arrhythmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GNE<\/td>603824<\/td>Inclusion body myopathy, type 2 (Nonaka myopathy)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>GNMT<\/td>606628<\/td>Glycine N-methyltransferase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>GNPAT<\/td>602744<\/td>Rhizomelic chondrodysplasia punctata, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>GNPTAB<\/td>607840<\/td>Mucolipidosis 2 alpha\/beta; Mucolipidosis 3 alpha\/beta<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GNPTG<\/td>607838<\/td>Mucolipidosis III gamma<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>GNRHR<\/td>138850<\/td>Hypogonadotropic hypogonadism, type 7, without anosmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>GNS<\/td>607664<\/td>Mucopolysaccharidosis, type 3D (Sanfilippo syndrome D)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>GORAB<\/td>607983<\/td>Geroderma osteodysplasticum<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>GOSR2<\/td>604027<\/td>Epilepsy, progressive myoclonic, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GOT2<\/td>138150<\/td>Epileptic encephalopathy, early infantile, 82<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>GP1BA<\/td>606672<\/td>Bernard-Soulier syndrome, type A1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>GP1BB<\/td>138720<\/td>Bernard-Soulier syndrome, type B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GP6<\/td>605546<\/td>Bleeding disorder, platelet-type, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GP9<\/td>173515<\/td>Bernard-Soulier syndrome, type C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>GPAA1<\/td>603048<\/td>Glycosylphosphatidylinositol biosynthesis defect 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>GPC6<\/td>604404<\/td>Omodysplasia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>GPD1<\/td>138420<\/td>Hypertriglyceridemia, transient infantile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>GPHN<\/td>603930<\/td>Molybdenum cofactor deficiency C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GPI<\/td>172400<\/td>Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>GPIHBP1<\/td>612757<\/td>Hyperlipoproteinemia, type 1D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>GPR143<\/td>300808<\/td>Ocular albinism, type 1 (Nettleship-Falls type)<\/td>X-linked<\/td>\n<\/tr>\n
        17<\/td>GPR179<\/td>614515<\/td>Night blindness, congenital stationary (complete), type 1E, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>GPR68<\/td>601404<\/td>Amelogenesis imperfecta, type 2A6 (hypomaturation type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>GPSM2<\/td>609245<\/td>Chudley-McCullough syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>GPT2<\/td>138210<\/td>Mental retardation, autosomal recessive 49<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GPX4<\/td>138322<\/td>Spondylometaphyseal dysplasia, Sedaghatian type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>GRHL2<\/td>608576<\/td>Ectodermal dysplasia\/short stature syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GRHPR<\/td>604296<\/td>Hyperoxaluria, primary, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>GRID2<\/td>602368<\/td>Spinocerebellar ataxia, autosomal recessive, type 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>GRIK2<\/td>138244<\/td>Mental retardation, autosomal recessive, type, 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>GRIN1<\/td>138249<\/td>Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>GRIP1<\/td>604597<\/td>Fraser syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>GRK1<\/td>180381<\/td>Oguchi disease-2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>GRM1<\/td>604473<\/td>Spinocerebellar ataxia, autosomal recessive, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>GRM6<\/td>604096<\/td>Night blindness, congenital stationary (complete), type 1B, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>GRN<\/td>138945<\/td>Ceroid lipofuscinosis, neuronal, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>GRXCR1<\/td>613283<\/td>Deafness, autosomal recessive, type 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>GSC<\/td>138890<\/td>Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>GSS<\/td>601002<\/td>Glutathione synthetase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>GTF2H5<\/td>608780<\/td>Trichothiodystrophy, type 3, photosensitive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>GTPBP2<\/td>607434<\/td>Jaberi-Elahi syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GTPBP3<\/td>608536<\/td>Combined oxidative phosphorylation deficiency 23<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>GUCY2C<\/td>601330<\/td>Meconium ileus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>GUCY2D<\/td>600179<\/td>Leber congenital amaurosis, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>GUF1<\/td>617064<\/td>?Epileptic encephalopathy, early infantile, 40<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>GUSB<\/td>611499<\/td>Mucopolysaccharidosis, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>GYG1<\/td>603942<\/td>Polyglucosan body myopathy, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>GYS1<\/td>138570<\/td>Glycogen storage disease, type 0, muscle<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>GYS2<\/td>138571<\/td>Glycogen storage disease, type 0, liver<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>GZF1<\/td>613842<\/td>Joint laxity, short stature, and myopia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>H6PD<\/td>138090<\/td>Cortisone reductase deficiency 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>HAAO<\/td>604521<\/td>Vertebral, cardiac, renal, and limb defects syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>HACE1<\/td>610876<\/td>Spastic paraplegia and psychomotor retardation with or without seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>HADH<\/td>601609<\/td>3-hydroxyacyl-CoA dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>HADHA<\/td>600890<\/td>Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>HADHB<\/td>143450<\/td>Mitochondrial trifunctional protein deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>HAMP<\/td>606464<\/td>Hemochromatosis, type 2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>HARS1<\/td>142810<\/td>Usher syndrome, type 3B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HAX1<\/td>605998<\/td>Neutropenia, severe congenital, type 3, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>HBA1<\/td>141800<\/td>Alpha thalassemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>HBA2<\/td>141850<\/td>Alpha thalassemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>HBB<\/td>141900<\/td>HBB-related hemoglobinopathies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>HCFC1<\/td>300019<\/td>Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )<\/td>X-linked<\/td>\n<\/tr>\n
        10<\/td>HELLS<\/td>603946<\/td>Immunodeficiency-centromeric instability-facial anomalies syndrome 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>HEPACAM<\/td>611642<\/td>Megalencephalic leukoencephalopathy with subcortical cysts 2A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>HERC1<\/td>605109<\/td>Macrocephaly, dysmorphic facies, and psychomotor retardation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>HERC2<\/td>605837<\/td>Mental retardation, autosomal recessive, type 38<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>HES7<\/td>608059<\/td>Spondylocostal dysostosis, type 4, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>HESX1<\/td>601802<\/td>Growth hormone deficiency with pituitary anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>HEXA<\/td>606869<\/td>Tay-Sachs disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>HEXB<\/td>606873<\/td>Sandhoff disease, infantile, juvenile, and adult forms<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>HFE<\/td>613609<\/td>Hemochromatosis, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HFM1<\/td>615684<\/td>Premature ovarian failure 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>HGD<\/td>607474<\/td>Alkaptonuria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>HGF<\/td>142409<\/td>Deafness, autosomal recessive, type 39<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>HGSNAT<\/td>610453<\/td>Mucopolysaccharidosis type 3C (Sanfilippo syndrome C)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>HIBCH<\/td>610690<\/td>3-hydroxyisobutryl-CoA hydrolase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>HIKESHI<\/td>614908<\/td>Leukodystrophy, hypomyelinating, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>HINT1<\/td>601314<\/td>Neuromyotonia and axonal neuropathy, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HJV<\/td>608374<\/td>Hemochromatosis, type 2A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>HK1<\/td>142600<\/td>Charcot-Marie-Tooth disease, type 4G<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>HLCS<\/td>609018<\/td>Holocarboxylase synthetase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HMGCL<\/td>613898<\/td>HMG-CoA lyase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HMGCS2<\/td>600234<\/td>HMG-CoA synthase-2 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>HMOX1<\/td>141250<\/td>Heme oxygenase-1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>HMX1<\/td>142992<\/td>Oculoauricular syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>HNMT<\/td>605238<\/td>Mental retardation, autosomal recessive, type 51<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>HOGA1<\/td>613597<\/td>Hyperoxaluria, primary, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>HOXA1<\/td>142955<\/td>Athabaskan brainstem dysgenesis syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>HOXB1<\/td>142968<\/td>Facial paresis, hereditary congenital, 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>HOXC13<\/td>142976<\/td>Ectodermal dysplasia 9, hair\/nail type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HPCA<\/td>142622<\/td>Dystonia 2, torsion, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>HPD<\/td>609695<\/td>Tyrosinemia, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>HPGD<\/td>601688<\/td>Hypertrophic osteoarthropathy, primary, type 1 (pachydermoperiostosis)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>HPRT1<\/td>308000<\/td>Lesch-Nyhan syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        10<\/td>HPS1<\/td>604982<\/td>Hermansky-Pudlak syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>HPS3<\/td>606118<\/td>Hermansky-Pudlak syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>HPS4<\/td>606682<\/td>Hermansky-Pudlak syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>HPS5<\/td>607521<\/td>Hermansky-Pudlak syndrome, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>HPS6<\/td>607522<\/td>Hermansky-Pudlak syndrome, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>HPSE2<\/td>613469<\/td>Urofacial syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>HR<\/td>602302<\/td>Alopecia universalis; Atrichia with papular lesions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>HSD11B2<\/td>614232<\/td>Apparent mineralocorticoid excess<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>HSD17B10<\/td>300256<\/td>HSD10 mitochondrial disease<\/td>X-linked<\/td>\n<\/tr>\n
        9<\/td>HSD17B3<\/td>605573<\/td>46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>HSD17B4<\/td>601860<\/td>D-bifunctional protein deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HSD3B2<\/td>613890<\/td>Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>HSD3B7<\/td>607764<\/td>Bile acid synthesis defect, congenital, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>HSPA9<\/td>600548<\/td>Even-plus syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>HSPD1<\/td>118190<\/td>Leukodystrophy, hypomyelinating, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>HSPG2<\/td>142461<\/td>Schwartz-Jampel syndrome, type 1; Dyssegmental dysplasia, Silverman-Handmaker type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>HTRA1<\/td>602194<\/td>CARASIL syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>HTRA2<\/td>606441<\/td>3-methylglutaconic aciduria, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>HYAL1<\/td>607071<\/td>?Mucopolysaccharidosis, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>HYC11<\/td>610531<\/td>Leukodystrophy, hypomyelinating, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>HYDIN<\/td>610812<\/td>Ciliary dyskinesia, primary, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>HYLS1<\/td>610693<\/td>Hydrolethalus syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>IARS1<\/td>600709<\/td>Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>IBA57<\/td>615316<\/td>Multiple mitochondrial dysfunctions syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ICOS<\/td>604558<\/td>Immunodeficiency, common variable, 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>IDH3B<\/td>604526<\/td>Retinitis pigmentosa, type 46<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>IDS<\/td>300823<\/td>Mucopolysaccharidosis, type 2<\/td>X-linked<\/td>\n<\/tr>\n
        4<\/td>IDUA<\/td>252800<\/td>Mucopolysaccharidosis type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>IER3IP1<\/td>609382<\/td>Microcephaly, epilepsy, and diabetes syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>IFNGR1<\/td>107470<\/td>Immunodeficiency, type 27A, mycobacteriosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>IFNGR2<\/td>147569<\/td>Immunodeficiency, type 28, mycobacteriosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>IFT122<\/td>606045<\/td>Cranioectodermal dysplasia 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>IFT140<\/td>614620<\/td>Retinitis pigmentosa, type 80; Short-rib thoracic dysplasia 9 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>IFT172<\/td>607386<\/td>Short-rib thoracic dysplasia 10 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>IFT43<\/td>614068<\/td>Short-rib thoracic dysplasia 18 with polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>IFT52<\/td>617094<\/td>Short-rib thoracic dysplasia 16 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>IFT80<\/td>611177<\/td>Short-rib thoracic dysplasia, type 2, with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>IFT81<\/td>605489<\/td>Short-rib thoracic dysplasia 19 with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>IGF1<\/td>147440<\/td>Growth retardation with deafness and mental retardation due to IGF1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>IGF1R<\/td>147370<\/td>Insulin-like growth factor I, resistance to<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        16<\/td>IGFALS<\/td>601489<\/td>Acid-labile subunit deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>IGFBP7<\/td>602867<\/td>Retinal arterial macroaneurysm with supravalvular pulmonic stenosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>IGHMBP2<\/td>600502<\/td>Charcot-Marie-Tooth disease, axonal, type 2S<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>IGLL1<\/td>146770<\/td>Agammaglobulinemia 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>IHH<\/td>600726<\/td>Acrocapitofemoral dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>IKBKB<\/td>603258<\/td>Immunodeficiency, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>IL10RA<\/td>146933<\/td>Inflammatory bowel disease, type 28, early onset, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>IL10RB<\/td>123889<\/td>Inflammatory bowel disease, type 25, early onset, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>IL11RA<\/td>600939<\/td>Craniosynostosis and dental anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>IL12B<\/td>161561<\/td>Immunodeficiency, type 29, mycobacteriosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>IL12RB1<\/td>601604<\/td>Immunodeficiency, type 30<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>IL17RA<\/td>605461<\/td>Immunodeficiency, type 51<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>IL17RC<\/td>610925<\/td>Candidiasis, familial, 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>IL1RAPL1<\/td>300206<\/td>Mental retardation, X-linked, type 21\/34<\/td>X-linked<\/td>\n<\/tr>\n
        2<\/td>IL1RN<\/td>147679<\/td>Sterile multifocal osteomyelitis with periostitis and pustulosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>IL21R<\/td>605383<\/td>Immunodeficiency, type 56<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>IL2RA<\/td>147730<\/td>Immunodeficiency, type 41, with lymphoproliferation and autoimmunity<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>IL2RG<\/td>308380<\/td>Severe combined immunodeficiency, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        2<\/td>IL36RN<\/td>605507<\/td>Psoriasis, type 14, pustular<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>IL7R<\/td>146661<\/td>Severe combined immunodeficiency, T-cell negative, B-cell\/natural killer cell-positive type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ILDR1<\/td>609739<\/td>Deafness, autosomal recessive, type 42<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>IMPA1<\/td>602064<\/td>Mental retardation, autosomal recessive 59<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>IMPG2<\/td>607056<\/td>Retinitis pigmentosa, type 56<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>INPP5E<\/td>613037<\/td>Joubert syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>INPP5K<\/td>607875<\/td>Muscular dystrophy, congenital, with cataracts and intellectual disability<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>INPPL1<\/td>600829<\/td>Opsismodysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>INS<\/td>176730<\/td>Permanent neonatal diabetes mellitus (PNDM)<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        19<\/td>INSR<\/td>147670<\/td>Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>INTS1<\/td>611345<\/td>Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>INVS<\/td>243305<\/td>Nephronophthisis, type 2, infantile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>IQCB1<\/td>609237<\/td>Senior-Loken syndrome, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>IQCE<\/td>617631<\/td>Polydactyly, postaxial, type A7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>IRAK4<\/td>606883<\/td>Immunodeficiency, type 67 (IRAK4 deficiency)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>IRF8<\/td>601565<\/td>Immunodeficiency, type 32B, monocyte and dendritic cell deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>IRX5<\/td>606195<\/td>Hamamy syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ISCA1<\/td>611006<\/td>Multiple mitochondrial dysfunctions syndrome 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>ISCA2<\/td>615317<\/td>Multiple mitochondrial dysfunctions syndrome 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>ISCU<\/td>611911<\/td>Myopathy with lactic acidosis, hereditary<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ISG15<\/td>147571<\/td>Immunodeficiency, type 38<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>ITCH<\/td>606409<\/td>Autoimmune disease, multisystem, with facial dysmorphism<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ITGA2B<\/td>607759<\/td>Glanzmann thrombasthenia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ITGA3<\/td>605025<\/td>Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ITGA6<\/td>147556<\/td>Epidermolysis bullosa, junctional, with pyloric stenosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>ITGA7<\/td>600536<\/td>Muscular dystrophy, congenital, due to ITGA7 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ITGA8<\/td>604063<\/td>Renal hypodysplasia\/aplasia 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>ITGB2<\/td>600065<\/td>Leukocyte adhesion deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ITGB3<\/td>173470<\/td>Glanzmann thrombasthenia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>ITGB4<\/td>147557<\/td>Epidermolysis bullosa, junctional, with pyloric atresia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ITGB6<\/td>147558<\/td>Amelogenesis imperfecta, type 1H<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>ITK<\/td>186973<\/td>Lymphoproliferative syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>ITPA<\/td>147520<\/td>Epileptic encephalopathy, early infantile, type 35<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ITPR1<\/td>147265<\/td>Gillespie syndrome<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        15<\/td>IVD<\/td>607036<\/td>Isovaleric acidemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>IYD<\/td>612025<\/td>Thyroid dyshormonogenesis, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>JAGN1<\/td>616012<\/td>Neutropenia, severe congenital, 6, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>JAK3<\/td>600173<\/td>Severe Combined Immunodeficiency, autosomal recessive, T-negative\/B-positive type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>JAM3<\/td>606871<\/td>Hemorrhagic destruction of the brain, subependymal calcification, and cataracts<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>JUP<\/td>173325<\/td>Naxos disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>KANK2<\/td>614610<\/td>Nephrotic syndrome, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>KARS1<\/td>601421<\/td>Deafness, autosomal recessive, type 89<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>KATNB1<\/td>602703<\/td>Lissencephaly 6, with microcephaly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>KATNIP<\/td>616650<\/td>Joubert syndrome 26<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>KCNE1<\/td>176261<\/td>Jervell and Lange-Nielsen syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>KCNJ1<\/td>600359<\/td>Bartter syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>KCNJ10<\/td>602208<\/td>SESAME syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>KCNJ11<\/td>600937<\/td>Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)<\/td>Autosomal recessive; Autosomal recessive*<\/td>\n<\/tr>\n
        2<\/td>KCNJ13<\/td>603208<\/td>Leber congenital amaurosis, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>KCNV2<\/td>607604<\/td>Retinal cone dystrophy, type 3B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>KCTD7<\/td>611725<\/td>Epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>KDM5C<\/td>314690<\/td>Mental retardation, X-linked, syndromic, Claes-Jensen type<\/td>X-linked<\/td>\n<\/tr>\n
        18<\/td>KDSR<\/td>136440<\/td>Erythrokeratodermia variabilis et progressiva 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>KERA<\/td>603288<\/td>Cornea plana 2, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>KHDC3L<\/td>611687<\/td>Hydatidiform mole, recurrent, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>KIAA0586<\/td>610178<\/td>Short-rib thoracic dysplasia 14 with polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>KIAA0753<\/td>617112<\/td>?Orofaciodigital syndrome, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>KIAA1549<\/td>613344<\/td>Retinitis pigmentosa, type 86<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>KIF14<\/td>611279<\/td>Microcephaly 20, primary, autosomal recessive; ?Meckel syndrome 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>KIF1A<\/td>601255<\/td>Neuropathy, hereditary sensory, type 2C; Spastic paraplegia, type 30, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>KIF1C<\/td>603060<\/td>Spastic ataxia 2, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>KIF7<\/td>611254<\/td>Acrocallosal syndrome; Joubert syndrome, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>KIFBP<\/td>609367<\/td>Goldberg-Shprintzen megacolon syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>KISS1R<\/td>604161<\/td>Hypogonadotropic hypogonadism, type 8, with or without anosmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>KIZ<\/td>615757<\/td>Retinitis pigmentosa 69<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>KLHL3<\/td>605775<\/td>Pseudohypoaldosteronism, type 2D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>KLHL40<\/td>615340<\/td>Nemaline myopathy 8, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>KLHL41<\/td>607701<\/td>Nemaline myopathy 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>KLHL7<\/td>611119<\/td>Cold-induced sweating syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>KLK4<\/td>603767<\/td>Amelogenesis imperfecta, type 2A1 (hypomaturation type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>KLKB1<\/td>229000<\/td>Fletcher factor (prekallikrein) deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>KNL1<\/td>609173<\/td>Microcephaly 4, primary, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>KPTN<\/td>615620<\/td>Mental retardation, autosomal recessive 41<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>KREMEN1<\/td>609898<\/td>Ectodermal dysplasia 13, hair\/tooth type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>KRT10<\/td>148080<\/td>Epidermolytic hyperkeratosis<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        17<\/td>KRT14<\/td>148066<\/td>Epidermolysis bullosa simplex, autosomal recessive, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>KRT25<\/td>616646<\/td>Woolly hair, autosomal recessive 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>KRT5<\/td>148040<\/td>Epidermolysis bullosa simplex, autosomal recessive, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>KRT85<\/td>602767<\/td>Ectodermal dysplasia 4, hair\/nail type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>KY<\/td>605739<\/td>Myopathy, myofibrillar, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>KYNU<\/td>605197<\/td>Vertebral, cardiac, renal, and limb defects syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>L1CAM<\/td>308840<\/td>L1 Syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        14<\/td>L2HGDH<\/td>609584<\/td>L-2-hydroxyglutaric aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>LAMA1<\/td>150320<\/td>Poretti-Boltshauser syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>LAMA2<\/td>156225<\/td>LAMA2-related muscular dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>LAMA3<\/td>600805<\/td>Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>LAMB1<\/td>150240<\/td>Lissencephaly, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>LAMB2<\/td>150325<\/td>Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities<\/td>Autosomal recessive; Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>LAMB3<\/td>150310<\/td>Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>LAMC2<\/td>150292<\/td>Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>LAMC3<\/td>604349<\/td>Cortical malformations, occipital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>LARGE1<\/td>603590<\/td>Muscular dystrophy-dystroglycanopathy, type 6A and 6B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>LARP7<\/td>612026<\/td>Alazami syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>LARS1<\/td>151350<\/td>?Infantile liver failure syndrome 1 (ILFS1)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>LARS2<\/td>604544<\/td>Perrault syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>LAT<\/td>602354<\/td>Immunodeficiency, type 52<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>LBR<\/td>600024<\/td>Greenberg skeletal dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>LCA5<\/td>611408<\/td>Leber congenital amaurosis, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>LCAT<\/td>606967<\/td>Familial LCAT deficiency; Fish-eye disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>LCK<\/td>153390<\/td>?Immunodeficiency, type 22<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>LCT<\/td>603202<\/td>Lactase deficiency, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>LDHA<\/td>150000<\/td>Glycogen storage disease type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>LDLR<\/td>606945<\/td>Hypercholesterolemia, familial, type 1<\/td>Autosomal recessive; Autosomal dominant<\/td>\n<\/tr>\n
        1<\/td>LDLRAP1<\/td>605747<\/td>Hypercholesterolemia, familial, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>LEMD2<\/td>616312<\/td>Cataract 46, juvenile-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>LEP<\/td>164160<\/td>Obesity, morbid, due to leptin deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>LEPR<\/td>601007<\/td>Obesity, morbid, due to leptin receptor deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>LGI4<\/td>608303<\/td>Arthrogryposis multiplex congenita, neurogenic, with myelin defect<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>LHB<\/td>152780<\/td>Hypogonadotropic hypogonadism, type 23, with or without anosmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>LHCGR<\/td>152790<\/td>Leydig cell hypoplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>LHFPL5<\/td>609427<\/td>Deafness, autosomal recessive, type 67<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>LHX3<\/td>600577<\/td>Pituitary hormone deficiency, combined, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>LIAS<\/td>607031<\/td>Hyperglycinemia, lactic acidosis, and seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>LIFR<\/td>151443<\/td>Stuve-Wiedemann syndrome \/ Schwartz-Jampel type 2 syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>LIG4<\/td>601837<\/td>LIG4 syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>LIM2<\/td>154045<\/td>Cataract 19, multiple types<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>LINS1<\/td>610350<\/td>Mental retardation, autosomal recessive, type 27<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>LIPA<\/td>613497<\/td>Lysosomal acid lipase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>LIPE<\/td>151750<\/td>Lipodystrophy, familial partial, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>LIPH<\/td>607365<\/td>Hypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>LIPN<\/td>613924<\/td>Ichthyosis, congenital, autosomal recessive 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>LIPT1<\/td>610284<\/td>Lipoyltransferase 1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>LIPT2<\/td>617659<\/td>Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>LMAN1<\/td>601567<\/td>Combined deficiency of factor V and factor VIII, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>LMBRD1<\/td>612625<\/td>Methylmalonic aciduria and homocystinuria, cblF type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>LMF1<\/td>611761<\/td>Lipase deficiency, combined<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>LMOD3<\/td>616112<\/td>Nemaline myopathy 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>LONP1<\/td>605490<\/td>CODAS syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>LOXHD1<\/td>613072<\/td>Deafness, autosomal recessive, type 77<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>LPAR6<\/td>609239<\/td>Hypotrichosis, type 8 or woolly hair, autosomal recessive, type 1, with or without hypotrichosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>LPIN1<\/td>605518<\/td>Myoglobinuria, acute recurrent, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>LPIN2<\/td>605519<\/td>Majeed syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>LPL<\/td>609708<\/td>Lipoprotein lipase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>LRAT<\/td>604863<\/td>Leber congenital amaurosis type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>LRBA<\/td>606453<\/td>Immunodeficiency, common variable, 8, with autoimmunity<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>LRIG2<\/td>608869<\/td>Urofacial syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>LRIT3<\/td>615004<\/td>Night blindness, congenital stationary (complete), 1F, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>LRMDA<\/td>614537<\/td>Albinism, oculocutaneous, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>LRP2<\/td>600073<\/td>Donnai-Barrow syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>LRP4<\/td>604270<\/td>Cenani-Lenz syndactyly syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>LRP5<\/td>603506<\/td>Osteoporosis-pseudoglioma syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>LRPAP1<\/td>104225<\/td>Myopia, type 23, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>LRPPRC<\/td>607544<\/td>Leigh syndrome, French-Canadian type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>LRSAM1<\/td>610933<\/td>Charcot-Marie-Tooth disease, axonal, type 2P<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>LRTOMT<\/td>612414<\/td>Deafness, autosomal recessive, type 63<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>LSS<\/td>600909<\/td>Alopecia-intellectual disability syndrome 4; Cataract 44; Hypotrichosis 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>LTBP2<\/td>602091<\/td>Microspherophakia and\/or megalocornea, with ectopia lentis and with or without secondary glaucoma<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>LTBP3<\/td>602090<\/td>Dental anomalies and short stature<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>LTBP4<\/td>604710<\/td>Cutis laxa, autosomal recessive, type 1C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>LYRM7<\/td>615831<\/td>Mitochondrial complex III deficiency, nuclear type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>LYST<\/td>606897<\/td>Chediak-Higashi syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>LZTFL1<\/td>606568<\/td>Bardet-Biedl syndrome, type 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>LZTR1<\/td>600574<\/td>Noonan syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>MAG<\/td>159460<\/td>Spastic paraplegia, type 75, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>MAGI2<\/td>606382<\/td>Nephrotic syndrome, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MAK<\/td>154235<\/td>Retinitis pigmentosa type 62<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>MALT1<\/td>604860<\/td>Immunodeficiency, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>MAN1B1<\/td>604346<\/td>Mental retardation, autosomal recessive, type 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>MAN2B1<\/td>609458<\/td>Alpha-mannosidosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>MANBA<\/td>609489<\/td>Mannosidosis, beta<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MAP3K20<\/td>609479<\/td>Centronuclear myopathy, type 6, with fiber-type disproportion<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>MAPKBP1<\/td>616786<\/td>Nephronophthisis 20<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>MAPT<\/td>157140<\/td>Supranuclear palsy, progressive atypical (parkinsonism syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>MARS1<\/td>156560<\/td>Interstitial lung and liver disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MARS2<\/td>609728<\/td>Spastic ataxia, type 3, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>MARVELD2<\/td>610572<\/td>Deafness, autosomal recessive, type 49<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>MASP1<\/td>600521<\/td>3MC syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>MAT1A<\/td>610550<\/td>Methionine adenosyltransferase deficiency, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MATN3<\/td>602109<\/td>?Spondyloepimetaphyseal dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>MBOAT7<\/td>606048<\/td>Mental retardation, autosomal recessive 57<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>MC2R<\/td>607397<\/td>Glucocorticoid deficiency, due to ACTH unresponsiveness<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>MCCC1<\/td>609010<\/td>3-Methylcrotonyl-CoA carboxylase deficiency, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>MCCC2<\/td>609014<\/td>3-Methylcrotonyl-CoA carboxylase deficiency, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MCEE<\/td>608419<\/td>Methylmalonyl-CoA epimerase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MCFD2<\/td>607788<\/td>Combined deficiency of factor V and factor VIII, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>MCIDAS<\/td>614086<\/td>Ciliary dyskinesia, primary, type 42<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>MCM3AP<\/td>603294<\/td>Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>MCM4<\/td>602638<\/td>Immunodeficiency, type 54<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MCM9<\/td>610098<\/td>Ovarian dysgenesis 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>MCOLN1<\/td>605248<\/td>Mucolipidosis type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>MCPH1<\/td>607117<\/td>Microcephaly type 1, primary, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>MDH2<\/td>154100<\/td>Epileptic encephalopathy, early infantile, 51<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>MECP2<\/td>300005<\/td>Encephalopathy, neonatal severe; Rett syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>MECR<\/td>608205<\/td>Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>MED17<\/td>603810<\/td>Microcephaly, postnatal progressive, with seizures and brain atrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MED23<\/td>605042<\/td>Mental retardation, autosomal recessive, type 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>MED25<\/td>610197<\/td>Basel-Vanagait-Smirin-Yosef syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>MEFV<\/td>608107<\/td>Familial Mediterranean fever<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>MEGF10<\/td>612453<\/td>Myopathy, areflexia, respiratory distress, and dysphagia, early-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>MEGF8<\/td>604267<\/td>Carpenter syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>MEOX1<\/td>600147<\/td>Klippel-Feil syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MERTK<\/td>604705<\/td>Retinitis pigmentosa type 38<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>MESP2<\/td>605195<\/td>Spondylocostal dysostosis, type 2, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>METTL23<\/td>615262<\/td>Mental retardation, autosomal recessive 44<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MFF<\/td>614785<\/td>Encephalopathy due to defective mitochondrial and peroxisomal fission, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MFN2<\/td>608507<\/td>Charcot-Marie-Tooth disease, axonal, type 2A2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>MFRP<\/td>606227<\/td>Microphthalmia, isolated type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MFSD2A<\/td>614397<\/td>Microcephaly 15, primary, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>MFSD8<\/td>611124<\/td>Ceroid lipofuscinosis, neuronal, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>MGAT2<\/td>602616<\/td>Congenital disorder of glycosylation, type 2a<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>MGME1<\/td>615076<\/td>Mitochondrial DNA depletion syndrome 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>MGP<\/td>154870<\/td>Keutel syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>MICU1<\/td>605084<\/td>Myopathy with extrapyramidal signs<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>MID1<\/td>300552<\/td>Opitz GBBB syndrome, type 1<\/td>X-linked<\/td>\n<\/tr>\n
        13<\/td>MIPEP<\/td>602241<\/td>Combined oxidative phosphorylation deficiency 31<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>MITF<\/td>156845<\/td>COMMAD syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>MKKS<\/td>604896<\/td>Bardet-Biedl syndrome type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>MKS1<\/td>609883<\/td>Bardet-Biedl syndrome type 13; Meckel syndrome, type 1; Joubert syndrome, type 28<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>MLC1<\/td>605908<\/td>Megalencephalic leukoencephalopathy with subcortical cysts<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MLPH<\/td>606526<\/td>Griscelli syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>MLYCD<\/td>606761<\/td>Malonyl-CoA decarboxylase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>MMAA<\/td>607481<\/td>Methylmalonic aciduria, vitamin B12-responsive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>MMAB<\/td>607568<\/td>Methylmalonic aciduria, vitamin B12-responsive, type cblB<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MMACHC<\/td>609831<\/td>Methylmalonic aciduria and homocystinuria, cblC type<\/td>Autosomal recessive; digenic inheritance (PRDX1 gene)<\/td>\n<\/tr>\n
        2<\/td>MMADHC<\/td>611935<\/td>Homocystinuria, cblD type, variant 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>MME<\/td>120520<\/td>Charcot-Marie-Tooth disease, axonal, type 2T<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        11<\/td>MMP13<\/td>600108<\/td>Metaphyseal dysplasia, Spahr type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>MMP2<\/td>120360<\/td>Multicentric osteolysis, nodulosis, and arthropathy (MONA)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>MMP20<\/td>604629<\/td>Amelogenesis imperfecta, type 2A2 (hypomaturation type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>MMP21<\/td>608416<\/td>Heterotaxy, visceral, 7, autosomal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MMUT<\/td>609058<\/td>Methylmalonic aciduria, mut(0) type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>MOCOS<\/td>613274<\/td>Xanthinuria, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MOCS1<\/td>603707<\/td>Molybdenum cofactor deficiency A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>MOCS2<\/td>603708<\/td>Molybdenum cofactor deficiency B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MOGS<\/td>601336<\/td>Congenital disorder of glycosylation, type 2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MPC1<\/td>614738<\/td>Mitochondrial pyruvate carrier deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>MPDU1<\/td>604041<\/td>Congenital disorder of glycosylation, type 1F<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>MPDZ<\/td>603785<\/td>Hydrocephalus, congenital, type 2, with or without brain or eye anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>MPI<\/td>154550<\/td>Congenital disorder of glycosylation, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MPIG6B<\/td>606520<\/td>Thrombocytopenia, anemia, and myelofibrosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MPL<\/td>159530<\/td>Thrombocytopenia, congenital amegakaryocytic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>MPLKIP<\/td>609188<\/td>Trichothiodystrophy, type 4, nonphotosensitive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>MPO<\/td>606989<\/td>Myeloperoxidase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>MPV17<\/td>137960<\/td>Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EE<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MPZ<\/td>159440<\/td>Dejerine-Sottas disease<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        21<\/td>MRAP<\/td>609196<\/td>Glucocorticoid deficiency, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>MRE11<\/td>600814<\/td>Ataxia-telangiectasia-like disorder 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>MRPS16<\/td>609204<\/td>Combined oxidative phosphorylation deficiency 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>MRPS22<\/td>605810<\/td>Combined oxidative phosphorylation deficiency type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>MRPS34<\/td>611994<\/td>Combined oxidative phosphorylation deficiency 32<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>MSH3<\/td>600887<\/td>Familial adenomatous polyposis, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>MSMO1<\/td>607545<\/td>Microcephaly, congenital cataract, and psoriasiform dermatitis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>MSRB3<\/td>613719<\/td>Deafness, autosomal recessive, type 74<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MSTO1<\/td>617619<\/td>Myopathy, mitochondrial, and ataxia<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        15<\/td>MTFMT<\/td>611766<\/td>Combined oxidative phosphorylation deficiency 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>MTHFD1<\/td>172460<\/td>Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MTHFR<\/td>607093<\/td>Homocystinuria due to MTHFR deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>MTM1<\/td>300415<\/td>Myotubular myopathy, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        11<\/td>MTMR2<\/td>603557<\/td>Charcot-Marie-Tooth disease, type 4B1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MTO1<\/td>614667<\/td>Combined oxidative phosphorylation deficiency 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MTR<\/td>156570<\/td>Homocystinuria-megaloblastic anemia, cblG complementation type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>MTRFR<\/td>613541<\/td>Combined oxidative phosphorylation deficiency 7; Spastic paraplegia, type 55, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>MTRR<\/td>602568<\/td>Homocystinuria-megaloblastic anemia, cbl E type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>MTTP<\/td>157147<\/td>Abetalipoproteinemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>MUSK<\/td>601296<\/td>Fetal akinesia deformation sequence, type 1; Myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>MUTYH<\/td>604933<\/td>Adenomas, multiple colorectal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>MVK<\/td>251170<\/td>Mevalonic aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>MYBPC1<\/td>160794<\/td>Lethal congenital contracture syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>MYD88<\/td>602170<\/td>Immunodeficiency, type 68<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>MYH2<\/td>160740<\/td>Proximal myopathy and ophthalmoplegia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>MYMK<\/td>615345<\/td>Carey-Fineman-Ziter syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>MYO15A<\/td>602666<\/td>Deafness, autosomal recessive, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>MYO18B<\/td>607295<\/td>Klippel-Feil syndrome, type 4, autosomal recessive, with myopathy and facial dysmorphism<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>MYO1E<\/td>601479<\/td>Glomerulosclerosis, focal segmental, 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>MYO3A<\/td>606808<\/td>Deafness, autosomal recessive, type 30<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>MYO5A<\/td>160777<\/td>Griscelli syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>MYO5B<\/td>606540<\/td>Microvillus inclusion disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>MYO6<\/td>600970<\/td>Deafness, autosomal recessive, type 37<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>MYO7A<\/td>276903<\/td>Usher syndrome, type 1B; Deafness, autosomal recessive, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>MYPN<\/td>608517<\/td>Nemaline myopathy, type 11, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NADK2<\/td>615787<\/td>2,4-dienoyl-CoA reductase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>NAGA<\/td>104170<\/td>Schindler disease, type I; Schindler disease, type III; Kanzaki disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>NAGLU<\/td>609701<\/td>Mucopolysaccharidosis, type 3B (Sanfilippo B)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>NAGS<\/td>608300<\/td>N-acetylglutamate synthase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>NALCN<\/td>611549<\/td>Hypotonia, infantile, with psychomotor retardation and characteristic facies 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>NANS<\/td>605202<\/td>Spondyloepimetaphyseal dysplasia, Camera-Genevieve type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>NARS2<\/td>612803<\/td>Combined oxidative phosphorylation deficiency 24<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NAXE<\/td>608862<\/td>Encephalopathy, progressive, early-onset, with brain edema and\/or leukoencephalopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NBAS<\/td>608025<\/td>Infantile liver failure syndrome, type 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>NBEAL2<\/td>614169<\/td>Gray platelet syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>NBN<\/td>602667<\/td>Nijmegen breakage syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>NCAPD3<\/td>609276<\/td>Microcephaly 22, primary, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>NCF1<\/td>608512<\/td>Chronic granulomatous disease, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NCF2<\/td>608515<\/td>Chronic granulomatous disease, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>NCF4<\/td>601488<\/td>Chronic granulomatous disease, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>NDE1<\/td>609449<\/td>Lissencephaly, type 4 (with microcephaly)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>NDP<\/td>300658<\/td>Norrie disease<\/td>X-linked<\/td>\n<\/tr>\n
        8<\/td>NDRG1<\/td>605262<\/td>Charcot-Marie-Tooth disease, type 4D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NDST1<\/td>600853<\/td>Mental retardation, autosomal recessive, type 46<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NDUFA10<\/td>603835<\/td>Mitochondrial complex I deficiency, nuclear type 22<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>NDUFA11<\/td>612638<\/td>Mitochondrial complex I deficiency, nuclear type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>NDUFA12<\/td>614530<\/td>?Mitochondrial complex I deficiency, nuclear type 23<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NDUFA2<\/td>602137<\/td>Mitochondrial complex I deficiency, nuclear type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>NDUFA9<\/td>603834<\/td>Mitochondrial complex I deficiency, nuclear type 26<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>NDUFAF1<\/td>606934<\/td>Mitochondrial complex I deficiency, nuclear type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NDUFAF2<\/td>609653<\/td>Mitochondrial complex I deficiency, nuclear type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>NDUFAF3<\/td>612911<\/td>Mitochondrial complex I deficiency, nuclear type 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>NDUFAF5<\/td>612360<\/td>Mitochondrial complex I deficiency, nuclear type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>NDUFAF6<\/td>612392<\/td>Mitochondrial complex I deficiency, nuclear type 17<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NDUFB3<\/td>603839<\/td>Mitochondrial complex I deficiency, nuclear type 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>NDUFB9<\/td>601445<\/td>Mitochondrial complex I deficiency, nuclear type 24<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NDUFS1<\/td>157655<\/td>Mitochondrial complex I deficiency, nuclear type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NDUFS2<\/td>602985<\/td>Mitochondrial complex I deficiency, nuclear type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>NDUFS3<\/td>603846<\/td>Mitochondrial complex I deficiency, nuclear type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NDUFS4<\/td>602694<\/td>Mitochondrial complex I deficiency, nuclear type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NDUFS6<\/td>603848<\/td>Mitochondrial complex I deficiency, nuclear type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>NDUFS7<\/td>601825<\/td>Mitochondrial complex I deficiency, nuclear type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>NDUFS8<\/td>602141<\/td>Mitochondrial complex I deficiency, nuclear type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>NDUFV1<\/td>161015<\/td>Mitochondrial complex I deficiency, nuclear type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>NDUFV2<\/td>600532<\/td>Mitochondrial complex I deficiency, nuclear type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NEB<\/td>161650<\/td>Nemaline myopathy type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>NECTIN1<\/td>600644<\/td>Cleft lip\/palate-ectodermal dysplasia syndrome; Orofacial cleft 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NECTIN4<\/td>609607<\/td>Ectodermal dysplasia-syndactyly syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>NEFL<\/td>162280<\/td>Charcot-Marie-Tooth disease, type 1F<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>NEK1<\/td>604588<\/td>Short-rib thoracic dysplasia, type 6, with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>NEK8<\/td>609799<\/td>Renal-hepatic-pancreatic dysplasia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>NEK9<\/td>609798<\/td>Lethal congenital contracture syndrome 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>NEU1<\/td>608272<\/td>Sialidosis, type 1 and type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>NEUROG3<\/td>604882<\/td>Diarrhea 4, malabsorptive, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NFU1<\/td>608100<\/td>Multiple mitochondrial dysfunctions syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NGF<\/td>162030<\/td>Neuropathy, hereditary sensory and autonomic, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>NGLY1<\/td>610661<\/td>Congenital disorder of deglycosylation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NHEJ1<\/td>611290<\/td>Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>NHLRC1<\/td>608072<\/td>Epilepsy, progressive myoclonic, type 2B (Lafora)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NHP2<\/td>606470<\/td>Dyskeratosis congenita, autosomal recessive type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>NIN<\/td>608684<\/td>Seckel syndrome, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NIPAL4<\/td>609383<\/td>Ichthyosis, congenital, autosomal recessive, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>NKX2-6<\/td>611770<\/td>Conotruncal heart malformations<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>NKX3-2<\/td>602183<\/td>Spondylo-megaepiphyseal-metaphyseal dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>NKX6-2<\/td>605955<\/td>Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>NLRP1<\/td>606636<\/td>Autoinflammation with arthritis and dyskeratosis<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        19<\/td>NLRP7<\/td>609661<\/td>Hydatidiform mole, recurrent, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>NME8<\/td>607421<\/td>Ciliary dyskinesia, primary, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NMNAT1<\/td>608700<\/td>Leber congenital amaurosis 9; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NNT<\/td>607878<\/td>Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>NOP10<\/td>606471<\/td>Dyskeratosis congenita, autosomal recessive type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>NPC1<\/td>607623<\/td>Niemann-Pick disease, type C1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>NPC2<\/td>601015<\/td>Niemann-pick disease, type C2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>NPHP1<\/td>607100<\/td>Joubert syndrome type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>NPHP3<\/td>608002<\/td>Meckel syndrome type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NPHP4<\/td>607215<\/td>Nephronophthisis type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>NPHS1<\/td>602716<\/td>Nephrotic syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NPHS2<\/td>604766<\/td>Nephrotic syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>NPR2<\/td>108961<\/td>Acromesomelic dysplasia, Maroteaux type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>NR0B1<\/td>300473<\/td>Adrenal hypoplasia, congenital<\/td>X-linked<\/td>\n<\/tr>\n
        12<\/td>NR1H4<\/td>603826<\/td>Cholestasis, progressive familial intrahepatic, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>NR2E3<\/td>604485<\/td>Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37<\/td>Autosomal recessive; Autosomal recessive*<\/td>\n<\/tr>\n
        14<\/td>NRL<\/td>162080<\/td>Retinal degeneration, autosomal recessive, clumped pigment type<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        2<\/td>NRXN1<\/td>600565<\/td>Pitt-Hopkins-like syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>NSMCE2<\/td>617246<\/td>Seckel syndrome, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>NSUN2<\/td>610916<\/td>Mental retardation, autosomal recessive, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>NT5C2<\/td>600417<\/td>Spastic paraplegia, type 45, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>NT5C3A<\/td>606224<\/td>Anemia, hemolytic, due to UMPH1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>NT5E<\/td>129190<\/td>Calcification of joints and arteries<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>NTHL1<\/td>602656<\/td>Familial adenomatous polyposis, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>NTRK1<\/td>191315<\/td>Insensitivity to pain, congenital, with anhidrosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>NUBPL<\/td>613621<\/td>Mitochondrial complex I deficiency, nuclear type 21<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>NUP107<\/td>607617<\/td>Nephrotic syndrome, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>NUP62<\/td>605815<\/td>Striatonigral degeneration, infantile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>NUP93<\/td>614351<\/td>Nephrotic syndrome, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>OAT<\/td>613349<\/td>Gyrate atrophy of choroid and retina<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>OBSL1<\/td>610991<\/td>3M syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>OCA2<\/td>611409<\/td>Oculocutaneous albinism type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>OCLN<\/td>602876<\/td>Pseudo-TORCH syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>OCRL<\/td>300535<\/td>Lowe Syndrome; Dent disease type 2<\/td>X-linked<\/td>\n<\/tr>\n
        19<\/td>ODAD1<\/td>615038<\/td>Ciliary dyskinesia, primary, type 20<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>ODAD2<\/td>615408<\/td>Ciliary dyskinesia, primary, type 23<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>ODAD3<\/td>615956<\/td>Ciliary dyskinesia, primary, type 30<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>OPA1<\/td>605290<\/td>Behr syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>OPA3<\/td>606580<\/td>3-methylglutaconic aciduria, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>OPHN1<\/td>300127<\/td>Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance<\/td>X-linked<\/td>\n<\/tr>\n
        10<\/td>OPTN<\/td>602432<\/td>Amyotrophic lateral sclerosis, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>ORAI1<\/td>610277<\/td>Immunodeficiency, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ORC1<\/td>601902<\/td>Meier-Gorlin syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ORC4<\/td>603056<\/td>Meier-Gorlin syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ORC6<\/td>607213<\/td>Meier-Gorlin syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>OSGEP<\/td>610107<\/td>Galloway-Mowat syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>OSTM1<\/td>607649<\/td>Osteopetrosis, autosomal recessive type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>OTC<\/td>300461<\/td>Ornithine transcarbamylase deficiency<\/td>X-linked<\/td>\n<\/tr>\n
        16<\/td>OTOA<\/td>607038<\/td>Deafness, autosomal recessive, type 22<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>OTOF<\/td>603681<\/td>Deafness, autosomal recessive, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>OTOG<\/td>604487<\/td>Deafness, autosomal recessive, type 18B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>OTOGL<\/td>614925<\/td>Deafness, autosomal recessive, type 84B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>OTUD6B<\/td>612021<\/td>Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>OTULIN<\/td>615712<\/td>Autoinflammation, panniculitis, and dermatosis syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>OXCT1<\/td>601424<\/td>Succinyl CoA:3-oxoacid CoA transferase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>P2RY12<\/td>600515<\/td>Bleeding disorder, platelet-type, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>P3H1<\/td>610339<\/td>Osteogenesis imperfecta, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>P3H2<\/td>610341<\/td>Myopia, high, with cataract and vitreoretinal degeneration<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PADI6<\/td>610363<\/td>Preimplantation embryonic lethality 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PAH<\/td>612349<\/td>Phenylketonuria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>PAK3<\/td>300142<\/td>Mental retardation, X-linked, type 30<\/td>X-linked<\/td>\n<\/tr>\n
        16<\/td>PALB2<\/td>610355<\/td>PALB2-related conditions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>PAM16<\/td>614336<\/td>Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>PANK2<\/td>606157<\/td>Neurodegeneration with brain iron accumulation type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PAPSS2<\/td>603005<\/td>Brachyolmia, type 4, with mild epiphyseal and metaphyseal changes<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PARK7<\/td>602533<\/td>Parkinson disease, type 7, autosomal recessive, early-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>PARN<\/td>604212<\/td>Dyskeratosis congenita, autosomal recessive 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>PATL2<\/td>614661<\/td>Oocyte maturation defect 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PAX7<\/td>167410<\/td>Rhabdomyosarcoma 2, alveolar<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PC<\/td>608786<\/td>Pyruvate carboxylase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PCARE<\/td>613425<\/td>Retinitis pigmentosa, type 54<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PCBD1<\/td>126090<\/td>Hyperphenylalaninemia, BH4-deficient, type D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>PCCA<\/td>232000<\/td>Propionic acidemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>PCCB<\/td>232050<\/td>Propionic acidemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>PCDH12<\/td>605622<\/td>Microcephaly, seizures, spasticity, and brain calcification<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PCDH15<\/td>605514<\/td>Deafness, autosomal recessive, type 23; Usher syndrome, type 1D\/F digenic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>PCK2<\/td>614095<\/td>PEPCK deficiency, mitochondrial<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>PCNT<\/td>605925<\/td>Microcephalic osteodysplastic primordial dwarfism, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>PCSK1<\/td>162150<\/td>Obesity with impaired prohormone processing<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>PCYT1A<\/td>123695<\/td>Spondylometaphyseal dysplasia with cone-rod dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PDE10A<\/td>610652<\/td>Dyskinesia, limb and orofacial, infantile-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>PDE6A<\/td>180071<\/td>Retinitis pigmentosa type 43<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>PDE6B<\/td>180072<\/td>Retinitis pigmentosa type 40<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PDE6C<\/td>600827<\/td>Cone dystrophy type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PDE6G<\/td>180073<\/td>Retinitis pigmentosa type 57<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PDE6H<\/td>601190<\/td>Retinal cone dystrophy 3 and achromatopsia 6<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        X<\/td>PDHA1<\/td>300502<\/td>Pyruvate dehydrogenase E1-alpha deficiency<\/td>X-linked<\/td>\n<\/tr>\n
        3<\/td>PDHB<\/td>179060<\/td>Pyruvate dehydrogenase E1-beta deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PDHX<\/td>608769<\/td>Lacticacidemia due to PDX1 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>PDP1<\/td>605993<\/td>Pyruvate dehydrogenase phosphatase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PDSS1<\/td>607429<\/td>Coenzyme Q10 deficiency, primary, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PDSS2<\/td>610564<\/td>Coenzyme Q10 deficiency, primary, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>PDX1<\/td>600733<\/td>Pancreatic agenesis type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>PDXK<\/td>179020<\/td>Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PDZD7<\/td>612971<\/td>Deafness, autosomal recessive, type 57; Usher syndrome, type 2C, digenic<\/td>Autosomal recessive; Digenic inheritance (ADGRV1 gene)<\/td>\n<\/tr>\n
        19<\/td>PEPD<\/td>613230<\/td>Prolidase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>PET100<\/td>614770<\/td>Mitochondrial complex IV deficiency, nuclear type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>PEX1<\/td>602136<\/td>Heimler syndrome 1; Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD\/IRD)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PEX10<\/td>602859<\/td>Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PEX11B<\/td>603867<\/td>?Peroxisome biogenesis disorder 14B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PEX12<\/td>601758<\/td>Peroxisome biogenesis disorder type 3A (Zellweger)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PEX13<\/td>601789<\/td>Peroxisome biogenesis disorder, type 11A (Zellweger syndrome); Peroxisome biogenesis disorder, type 11B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PEX14<\/td>601791<\/td>Peroxisome biogenesis disorder, type 13A (Zellweger syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PEX16<\/td>603360<\/td>Peroxisome biogenesis disorder, type 8A (Zellweger syndrome); Peroxisome biogenesis disorder, type 8B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PEX19<\/td>600279<\/td>Peroxisome biogenesis disorder, type 12A (Zellweger syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>PEX2<\/td>170993<\/td>Peroxisome biogenesis disorder type 5A (Zellweger)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>PEX26<\/td>608666<\/td>Peroxisome biogenesis disorder type 7A (Zellweger)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PEX3<\/td>603164<\/td>Peroxisome biogenesis disorder, type 10A (Zellweger syndrome)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PEX5<\/td>600414<\/td>Peroxisome biogenesis disorder type 2A (Zellweger)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PEX6<\/td>601498<\/td>Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2<\/td>Autosomal recessive; Autosomal recessive*; Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PEX7<\/td>601757<\/td>Rhizomelic chondrodysplasia punctata, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PFKM<\/td>610681<\/td>Glycogen storage disease, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>PGAM2<\/td>612931<\/td>Glycogen storage disease X<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PGAP1<\/td>611655<\/td>Mental retardation, autosomal recessive 42<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PGAP2<\/td>615187<\/td>Hyperphosphatasia with mental retardation syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PGAP3<\/td>611801<\/td>Hyperphosphatasia with mental retardation syndrome 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>PGK1<\/td>311800<\/td>Phosphoglycerate kinase 1 deficiency<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>PGM1<\/td>171900<\/td>Congenital disorder of glycosylation, type 1t<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PGM3<\/td>172100<\/td>Immunodeficiency, type 23<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>PHF8<\/td>300560<\/td>Mental retardation syndrome, X-linked, Siderius type<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>PHGDH<\/td>606879<\/td>Neu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>PHKB<\/td>172490<\/td>Glycogen storage disease, type 9B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>PHKG2<\/td>172471<\/td>Glycogen storage disease type 9c<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PHOX2A<\/td>602753<\/td>Fibrosis of extraocular muscles, congenital, 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PHYH<\/td>602026<\/td>Refsum disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>PI4KA<\/td>600286<\/td>Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>PIBF1<\/td>607532<\/td>Joubert syndrome 33<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>PIEZO1<\/td>611184<\/td>Lymphedema, hereditary, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>PIEZO2<\/td>613629<\/td>Arthrogryposis, distal, with impaired proprioception and touch<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PIGC<\/td>601730<\/td>Glycosylphosphatidylinositol biosynthesis defect 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>PIGG<\/td>616918<\/td>Mental retardation, autosomal recessive 53<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PIGL<\/td>605947<\/td>Zunich neuroectodermal syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PIGM<\/td>610273<\/td>Glycosylphosphatidylinositol deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>PIGN<\/td>606097<\/td>Multiple congenital anomalies-hypotonia-seizures syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>PIGO<\/td>614730<\/td>Hyperphosphatasia with mental retardation syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>PIGT<\/td>610272<\/td>Multiple congenital anomalies-hypotonia-seizures syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PIGV<\/td>610274<\/td>Hyperphosphatasia with mental retardation syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PIGW<\/td>610275<\/td>Glycosylphosphatidylinositol biosynthesis defect 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>PIGY<\/td>610662<\/td>Hyperphosphatasia with mental retardation syndrome 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PINK1<\/td>608309<\/td>Parkinson disease, type 6, early onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>PIP5K1C<\/td>606102<\/td>Lethal congenital contractural syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PJVK<\/td>610219<\/td>Deafness, autosomal recessive, type 59<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>PKD1L1<\/td>609721<\/td>Heterotaxy, visceral, 8, autosomal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PKHD1<\/td>606702<\/td>Polycystic kidney disease type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PKLR<\/td>609712<\/td>Pyruvate kinase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PKP1<\/td>601975<\/td>Ectodermal dysplasia\/skin fragility syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>PLA2G6<\/td>603604<\/td>Infantile neuroaxonal dystrophy type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>PLAA<\/td>603873<\/td>Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>PLCB1<\/td>607120<\/td>Epileptic encephalopathy, early infantile, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>PLCB4<\/td>600810<\/td>Auriculocondylar syndrome, type 2<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        3<\/td>PLCD1<\/td>602142<\/td>Nail disorder, nonsyndromic congenital, type 3 (leukonychia)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PLCE1<\/td>608414<\/td>Nephrotic syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>PLD1<\/td>602382<\/td>Cardiac valvular defect, developmental<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>PLEC<\/td>601282<\/td>Epidermolysis bullosa simplex with muscular dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PLEKHG5<\/td>611101<\/td>Charcot-Marie-Tooth disease, recessive intermediate, type C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PLG<\/td>173350<\/td>Plasminogen deficiency, type I<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>PLK4<\/td>605031<\/td>Microcephaly and chorioretinopathy, autosomal recessive, 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PLOD1<\/td>153454<\/td>Ehlers-Danlos syndrome, kyphoscoliotic type, 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>PLOD2<\/td>601865<\/td>Bruck syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>PLOD3<\/td>603066<\/td>Lysyl hydroxylase 3 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>PLP1<\/td>300401<\/td>Pelizaeus-Merzbacher disease<\/td>X-linked<\/td>\n<\/tr>\n
        8<\/td>PLPBP<\/td>604436<\/td>Epilepsy, early-onset, vitamin B6-dependent<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>PMM2<\/td>601785<\/td>Congenital disorder of glycosylation, type 1A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PMP22<\/td>601097<\/td>Dejerine-Sottas disease<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        9<\/td>PMPCA<\/td>613036<\/td>Spinocerebellar ataxia, autosomal recessive, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>PMPCB<\/td>603131<\/td>Multiple mitochondrial dysfunctions syndrome 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>PNKP<\/td>605610<\/td>Microcephaly, seizures, and developmental delay; Ataxia-oculomotor apraxia 4; ?Charcot-Marie-Tooth disease, type 2B2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>PNP<\/td>164050<\/td>Immunodeficiency due to purine nucleoside phosphorylase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PNPLA1<\/td>612121<\/td>Ichthyosis, congenital, autosomal recessive, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PNPLA2<\/td>609059<\/td>Neutral lipid storage disease with myopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>PNPLA6<\/td>603197<\/td>Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome; Spastic paraplegia, type 39, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PNPO<\/td>603287<\/td>Pyridoxamine 5'-phosphate oxidase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PNPT1<\/td>610316<\/td>Combined oxidative phosphorylation deficiency 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>POC1A<\/td>614783<\/td>Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>POC1B<\/td>614784<\/td>Cone-rod dystrophy 20<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>POLE<\/td>174762<\/td>FILS syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>POLG<\/td>174763<\/td>POLG-related disorders<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>POLH<\/td>603968<\/td>Xeroderma pigmentosum, variant type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>POLR1C<\/td>610060<\/td>Leukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>POLR1D<\/td>613715<\/td>Treacher Collins syndrome, type 2<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        10<\/td>POLR3A<\/td>614258<\/td>Leukodystrophy, hypomyelinating, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>POLR3B<\/td>614366<\/td>Leukodystrophy, hypomyelinating, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>POMC<\/td>176830<\/td>Obesity, adrenal insufficiency, and red hair due to POMC deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>POMGNT1<\/td>606822<\/td>Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>POMGNT2<\/td>614828<\/td>Muscular dystrophy-dystroglycanopathy, type 8A (Walker-Warburg syndrome); Type 8C (limb-girdle muscular dystrophy, type 24 [LGMD R24])<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>POMK<\/td>615247<\/td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>POMP<\/td>613386<\/td>Keratosis linearis with ichthyosis congenita and sclerosing keratoderma<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>POMT1<\/td>607423<\/td>Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>POMT2<\/td>607439<\/td>Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>POP1<\/td>602486<\/td>Anauxetic dysplasia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>POR<\/td>124015<\/td>Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>POU1F1<\/td>173110<\/td>Pituitary hormone deficiency, combined, type 1<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        X<\/td>POU3F4<\/td>300039<\/td>Deafness, X-linked, type 2<\/td>X-linked<\/td>\n<\/tr>\n
        4<\/td>PPA2<\/td>609988<\/td>Sudden cardiac failure, infantile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>PPIB<\/td>123841<\/td>Osteogenesis imperfecta, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>PPM1K<\/td>611065<\/td>?Maple syrup urine disease, mild variant<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PPP1R15B<\/td>613257<\/td>Microcephaly, short stature, and impaired glucose metabolism 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PPT1<\/td>600722<\/td>Ceroid lipofuscinosis, neuronal, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>PQBP1<\/td>300463<\/td>Renpenning syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        17<\/td>PRCD<\/td>610598<\/td>Retinitis pigmentosa, type 36<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>PRDM12<\/td>616458<\/td>Neuropathy, hereditary sensory and autonomic, type VIII<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>PRDM5<\/td>614161<\/td>Brittle cornea syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PRDX1<\/td>176763<\/td>Methylmalonic aciduria and homocystinuria, cblC type, digenic<\/td>Autosomal recessive; Digenic inheritance (MMACHC gene)<\/td>\n<\/tr>\n
        2<\/td>PREPL<\/td>609557<\/td>Myasthenic syndrome, congenital, type 22<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PRF1<\/td>170280<\/td>Hemophagocytic lymphohistiocytosis, familial, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PRG4<\/td>604283<\/td>Camptodactyly-arthropathy-coxa vara-pericarditis syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PRICKLE1<\/td>608500<\/td>Epilepsy, progressive myoclonic, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>PRKCD<\/td>176977<\/td>Autoimmune lymphoproliferative syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PRKN<\/td>602544<\/td>Parkinson disease, type 2, juvenile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PRKRA<\/td>603424<\/td>Dystonia, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>PRMT7<\/td>610087<\/td>Short stature, brachydactyly, intellectual developmental disability, and seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PROC<\/td>612283<\/td>Thrombophilia due to protein C deficiency, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>PRODH<\/td>606810<\/td>Hyperprolinemia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>PROM1<\/td>604365<\/td>Retinitis pigmentosa, type 41<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>PROP1<\/td>601538<\/td>Pituitary hormone deficiency, combined, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>PROS1<\/td>176880<\/td>Thrombophilia due to protein S deficiency, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PRPH2<\/td>179605<\/td>Leber congenital amaurosis 18; Retinitis punctata albescens<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        X<\/td>PRPS1<\/td>311850<\/td>PRPS1-related disoders<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>PRRX1<\/td>167420<\/td>Agnathia-otocephaly complex<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        4<\/td>PRSS12<\/td>606709<\/td>Mental retardation, autosomal recessive, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PRSS56<\/td>613858<\/td>Microphthalmia, isolated, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PRUNE1<\/td>617413<\/td>Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>PRX<\/td>605725<\/td>Charcot-Marie-Tooth disease, type 4F<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PSAP<\/td>176801<\/td>Combined SAP deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>PSAT1<\/td>610936<\/td>Neu-Laxova syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>PSMB8<\/td>177046<\/td>Autoinflammation, lipodystrophy, and dermatosis syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PSMC3IP<\/td>608665<\/td>Ovarian dysgenesis 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>PSPH<\/td>172480<\/td>Phosphoserine phosphatase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>PTF1A<\/td>607194<\/td>Pancreatic agenesis 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PTH<\/td>168450<\/td>Hypoparathyroidism, familial isolated, type 1<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        3<\/td>PTH1R<\/td>168468<\/td>Chondrodysplasia, Blomstrand type; Eiken syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>PTPN23<\/td>606584<\/td>Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PTPRC<\/td>151460<\/td>Severe combined immunodeficiency, T cell-negative, B-cell\/natural killer-cell positive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PTPRO<\/td>600579<\/td>Nephrotic syndrome, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PTPRQ<\/td>603317<\/td>Deafness, autosomal recessive, type 84A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PTRH2<\/td>608625<\/td>Infantile-onset multisystem neurologic, endocrine, and pancreatic disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PTS<\/td>612719<\/td>Hyperphenylalaninemia, BH4-deficient, type A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PUS1<\/td>608109<\/td>Myopathy, lactic acidosis, and sideroblastic anemia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>PXDN<\/td>605158<\/td>Anterior segment dysgenesis, type 7, with sclerocornea<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>PYCR1<\/td>179035<\/td>Cutis laxa, autosomal recessive, type 2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>PYCR2<\/td>616406<\/td>Leukodystrophy, hypomyelinating, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>PYGL<\/td>613741<\/td>Glycogen storage disease, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>PYGM<\/td>608455<\/td>McArdle disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>PYROXD1<\/td>617220<\/td>Myopathy, myofibrillar, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>QARS1<\/td>603727<\/td>Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>QDPR<\/td>612676<\/td>Hyperphenylalaninemia, BH4-deficient, type C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>RAB18<\/td>602207<\/td>Warburg micro syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RAB23<\/td>606144<\/td>Carpenter syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>RAB27A<\/td>603868<\/td>Griscelli syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>RAB28<\/td>612994<\/td>Cone-rod dystrophy 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>RAB33B<\/td>605950<\/td>Smith-McCort dysplasia 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>RAB3GAP1<\/td>602536<\/td>Warburg micro syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>RAB3GAP2<\/td>609275<\/td>Martsolf syndrome 1; Warburg micro syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>RAD50<\/td>604040<\/td>Nijmegen breakage syndrome-like disorder<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>RAD51C<\/td>602774<\/td>RAD51C-related conditions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>RAG1<\/td>179615<\/td>Omenn syndrome; Severe combined immunodeficiency, B cell-negative<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>RAG2<\/td>179616<\/td>Omenn syndrome; Severe combined immunodeficiency, B cell-negative<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>RAPSN<\/td>601592<\/td>Fetal akinesia deformation sequence, type 2; Myasthenic syndrome, congenital, type 11, associated with AChR deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>RARB<\/td>180220<\/td>Microphthalmia, syndromic 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>RARS1<\/td>107820<\/td>Leukodystrophy, hypomyelinating, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RARS2<\/td>611524<\/td>Pontocerebellar hypoplasia, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>RASGRP1<\/td>603962<\/td>Immunodeficiency, type 64<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>RAX<\/td>601881<\/td>Isolated microphthalmia, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>RBBP8<\/td>604124<\/td>Jawad syndrome; Seckel syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>RBCK1<\/td>610924<\/td>Polyglucosan body myopathy 1 with or without immunodeficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>RBM8A<\/td>605313<\/td>Thrombocytopenia-absent radius syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>RBP3<\/td>180290<\/td>?Retinitis pigmentosa 66<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>RBP4<\/td>180250<\/td>Retinal dystrophy, iris coloboma, and comedogenic acne syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>RCBTB1<\/td>607867<\/td>Retinal dystrophy with or without extraocular anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>RD3<\/td>180040<\/td>Leber congenital amaurosis, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>RDH12<\/td>608830<\/td>Leber congenital amaurosis, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>RDH5<\/td>601617<\/td>Fundus albipunctatus<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        11<\/td>RDX<\/td>179410<\/td>Deafness, autosomal recessive, type 24<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>RECQL4<\/td>603780<\/td>Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>REEP6<\/td>609346<\/td>Retinitis pigmentosa 77<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>RELN<\/td>600514<\/td>Lissencephaly 2 (Norman-Roberts type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>REN<\/td>179820<\/td>Renal tubular dysgenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>RETREG1<\/td>613114<\/td>Neuropathy, hereditary sensory and autonomic, type 2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>RFT1<\/td>611908<\/td>Congenital disorder of glycosylation, type In<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>RFX5<\/td>601863<\/td>Bare lymphocyte syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RFX6<\/td>612659<\/td>Mitchell-Riley syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>RFXANK<\/td>603200<\/td>Bare lymphocyte syndrome, type 2, complementation group B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>RFXAP<\/td>601861<\/td>Bare lymphocyte syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>RHO<\/td>180380<\/td>Retinitis pigmentosa, type 4; Retinitis punctata albescens<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        20<\/td>RIN2<\/td>610222<\/td>Macs syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>RIPK4<\/td>605706<\/td>Popliteal pterygium syndrome, Bartsocas-Papas type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RIPOR2<\/td>611410<\/td>Deafness, autosomal recessive, type 104<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>RLBP1<\/td>180090<\/td>Bothnia retinal dystrophy; Fundus albipunctatus<\/td>Autosomal recessive; Autosomal recessive*<\/td>\n<\/tr>\n
        6<\/td>RMND1<\/td>614917<\/td>Combined oxidative phosphorylation deficiency 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>RMRP<\/td>157660<\/td>Anauxetic dysplasia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>RNASEH1<\/td>604123<\/td>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>RNASEH2A<\/td>606034<\/td>Aicardi-Goutieres syndrome, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>RNASEH2B<\/td>610326<\/td>Aicardi-Goutieres syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>RNASEH2C<\/td>610330<\/td>Aicardi-Goutieres syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RNASET2<\/td>612944<\/td>Leukoencephalopathy, cystic, without megalencephaly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>RNF168<\/td>612688<\/td>RIDDLE syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>RNF216<\/td>609948<\/td>Gordon Holmes syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ROBO3<\/td>608630<\/td>Gaze palsy, familial horizontal, with progressive scoliosis, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ROGDI<\/td>614574<\/td>Kohlschutter-Tonz syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ROM1<\/td>180721<\/td>Retinitis pigmentosa, type 7, digenic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>ROR2<\/td>602337<\/td>Robinow syndrome, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>RORC<\/td>602943<\/td>Immunodeficiency, type 42<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>RP1<\/td>603937<\/td>Retinitis pigmentosa, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>RP2<\/td>300757<\/td>Retinitis pigmentosa, type 2, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>RPE65<\/td>180069<\/td>RPE65-related Leber\u00a0congenital\u00a0amaurosis\/early-onset severe retinal dystrophy\u00a0<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>RPGR<\/td>312610<\/td>Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1<\/td>X-linked<\/td>\n<\/tr>\n
        14<\/td>RPGRIP1<\/td>605446<\/td>Leber congenital amaurosis, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>RPGRIP1L<\/td>610937<\/td>Joubert syndrome, type 7; Meckel syndrome, type 5; COACH syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>RRM2B<\/td>604712<\/td>Mitochondrial DNA depletion syndrome, type 8A (encephalomyopathic type with renal tubulopathy) and type 8B (MNGIE type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>RS1<\/td>300839<\/td>Retinoschisis<\/td>X-linked<\/td>\n<\/tr>\n
        21<\/td>RSPH1<\/td>609314<\/td>Ciliary dyskinesia, primary, type 24<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RSPH3<\/td>615876<\/td>Ciliary dyskinesia, primary, type 32<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RSPH4A<\/td>612647<\/td>Ciliary dyskinesia, primary, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>RSPH9<\/td>612648<\/td>Ciliary dyskinesia, primary, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>RSPO4<\/td>610573<\/td>Anonychia congenita<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>RSPRY1<\/td>616585<\/td>Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>RTEL1<\/td>608833<\/td>Dyskeratosis congenita, autosomal recessive type 5<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        6<\/td>RTN4IP1<\/td>610502<\/td>Optic atrophy 10 with or without ataxia, mental retardation, and seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>RTTN<\/td>610436<\/td>Microcephaly, short stature, and polymicrogyria with seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>RUSC2<\/td>611053<\/td>Mental retardation, autosomal recessive 61<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>RXYLT1<\/td>605862<\/td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>RYR1<\/td>180901<\/td>Malignant hyperthermia susceptibility, type 1<\/td>Autosomal dominant<\/td>\n<\/tr>\n
        19<\/td>S1PR2<\/td>605111<\/td>Deafness, autosomal recessive, type 68<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>SACS<\/td>604490<\/td>Spastic ataxia, Charlevoix-Saguenay, type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SAG<\/td>181031<\/td>Oguchi disease, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SAMD9<\/td>610456<\/td>Tumoral calcinosis, familial, normophosphatemic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>SAMHD1<\/td>606754<\/td>Aicardi-Goutieres syndrome, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SAR1B<\/td>607690<\/td>Chylomicron retention disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SARS2<\/td>612804<\/td>Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SBDS<\/td>607444<\/td>Shwachman-Diamond syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>SBF1<\/td>603560<\/td>Charcot-Marie-Tooth disease, type 4B3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SBF2<\/td>607697<\/td>Charcot-Marie-Tooth disease, type 4B2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SC5D<\/td>602286<\/td>Lathosterolosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SCARB2<\/td>602257<\/td>Epilepsy, progressive myoclonic, type 4, with or without renal failure<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>SCARF2<\/td>613619<\/td>Van den Ende-Gupta syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SCN1B<\/td>600235<\/td>Epileptic encephalopathy, early infantile, type 52<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SCN4A<\/td>603967<\/td>Myasthenic syndrome, congenital, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SCN9A<\/td>603415<\/td>Indifference to pain and autosomal recessive hereditary sensory neuropathy type 2D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>SCNN1A<\/td>600228<\/td>Pseudohypoaldosteronism, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>SCNN1B<\/td>600760<\/td>Pseudohypoaldosteronism, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>SCNN1G<\/td>600761<\/td>Pseudohypoaldosteronism, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SCO1<\/td>603644<\/td>Mitochondrial complex IV deficiency, nuclear type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>SCO2<\/td>604272<\/td>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SCYL1<\/td>607982<\/td>Spinocerebellar ataxia, autosomal recessive, type 21<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SDCCAG8<\/td>613524<\/td>Bardet-Biedl syndrome, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SDHA<\/td>600857<\/td>Mitochondrial respiratory chain complex II deficiency; Leigh syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SDHAF1<\/td>612848<\/td>Mitochondrial complex II deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>SDR9C7<\/td>609769<\/td>Ichthyosis, congenital, autosomal recessive 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>SEC23A<\/td>610511<\/td>Craniolenticulosutural dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>SEC23B<\/td>610512<\/td>Dyserythropoietic anemia, congenital, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SEC24D<\/td>607186<\/td>Cole-Carpenter syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>SECISBP2<\/td>607693<\/td>Thyroid hormone metabolism, abnormal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SELENON<\/td>606210<\/td>Muscular dystrophy, rigid spine, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SEMA4A<\/td>607292<\/td>Cone-rod dystrophy, type 10; Retinitis pigmentosa, type 35<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SEPSECS<\/td>613009<\/td>Pontocerebellar hypoplasia, type 2D<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>SERAC1<\/td>614725<\/td>3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>SERPINA1<\/td>107400<\/td>Alpha-1 antitrypsin deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>SERPINB7<\/td>603357<\/td>Palmoplantar keratoderma, Nagashima type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>SERPINB8<\/td>601697<\/td>Peeling skin syndrome 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SERPINC1<\/td>107300<\/td>Thrombophilia due to antithrombin III deficiency<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        7<\/td>SERPINE1<\/td>173360<\/td>Plasminogen activator inhibitor-1 deficiency<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        17<\/td>SERPINF1<\/td>172860<\/td>Osteogenesis imperfecta, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SERPINF2<\/td>613168<\/td>Alpha-2-plasmin inhibitor deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SERPING1<\/td>606860<\/td>Angioedema, hereditary, types 1 and 2<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        11<\/td>SERPINH1<\/td>600943<\/td>Osteogenesis imperfecta, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>SETX<\/td>608465<\/td>Spinocerebellar ataxia, autosomal recessive, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SFRP4<\/td>606570<\/td>Pyle disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SFTPB<\/td>178640<\/td>Surfactant metabolism dysfunction, pulmonary, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>SFXN4<\/td>615564<\/td>Combined oxidative phosphorylation deficiency 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SGCA<\/td>600119<\/td>Limb-girdle muscular dystrophy, type 3 (LGMD R3)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SGCB<\/td>600900<\/td>Limb-girdle muscular dystrophy, type 4 (LGMD R4)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SGCD<\/td>601411<\/td>Limb-girdle muscular dystrophy, type 6 (LGMD R6)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>SGCG<\/td>608896<\/td>Limb-girdle muscular dystrophy, type 5 (LGMD R5)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>SGPL1<\/td>603729<\/td>Nephrotic syndrome, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SGSH<\/td>605270<\/td>Mucopolysaccharidosis, type 3A (Sanfilippo A)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>SH2D1A<\/td>300490<\/td>Lymphoproliferative syndrome, X-linked, type 1<\/td>X-linked<\/td>\n<\/tr>\n
        5<\/td>SH3PXD2B<\/td>613293<\/td>Frank-ter Haar syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SH3TC2<\/td>608206<\/td>Charcot-Marie-Tooth disease, type 4C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SI<\/td>609845<\/td>Sucrase-isomaltase deficiency, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SIL1<\/td>608005<\/td>Marinesco-Sjogren syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>SIX6<\/td>606326<\/td>Optic disc anomalies with retinal and\/or macular dystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>SKIC2<\/td>600478<\/td>Trichohepatoenteric syndrome, type 2 (diarrhea, syndromic)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SKIC3<\/td>614589<\/td>Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>SLC10A2<\/td>601295<\/td>Bile acid malabsorption, primary<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>SLC11A2<\/td>600523<\/td>Anemia, hypochromic microcytic, with iron overload 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>SLC12A1<\/td>600839<\/td>Bartter syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>SLC12A3<\/td>600968<\/td>Gitelman syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>SLC12A5<\/td>606726<\/td>Epileptic encephalopathy, early infantile, 34<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>SLC12A6<\/td>604878<\/td>Agenesis of the corpus callosum with peripheral neuropathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SLC13A5<\/td>608305<\/td>Epileptic encephalopathy, early infantile, 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SLC16A1<\/td>600682<\/td>Monocarboxylate transporter 1 deficiency<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        X<\/td>SLC16A2<\/td>300095<\/td>Allan-Herndon-Dudley syndrome<\/td>X-linked<\/td>\n<\/tr>\n
        6<\/td>SLC17A5<\/td>604322<\/td>Salla disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>SLC18A3<\/td>600336<\/td>Myasthenic syndrome, congenital, 21, presynaptic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SLC19A2<\/td>603941<\/td>Thiamine-responsive megaloblastic anemia syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SLC19A3<\/td>606152<\/td>Thiamine metabolism dysfunction syndrome, type 2 (biotin- or thiamine-responsive encephalopathy type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>SLC1A1<\/td>133550<\/td>Dicarboxylic aminoaciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SLC1A4<\/td>600229<\/td>Spastic tetraplegia, thin corpus callosum, and progressive microcephaly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SLC22A12<\/td>607096<\/td>Hypouricemia, renal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SLC22A5<\/td>603377<\/td>Carnitine deficiency, systemic primary<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>SLC24A1<\/td>603617<\/td>Night blindness, congenital stationary (complete), type 1D, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>SLC24A4<\/td>609840<\/td>Amelogenesis imperfecta, type IIA5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>SLC24A5<\/td>609802<\/td>Albinism, oculocutaneous, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>SLC25A1<\/td>190315<\/td>Combined D-2- and L-2-hydroxyglutaric aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SLC25A12<\/td>603667<\/td>Epileptic encephalopathy, early infantile, type 39<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SLC25A13<\/td>603859<\/td>Citrullinemia, type 2, neonatal-onset; Citrullinemia, type 2, adult-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>SLC25A15<\/td>603861<\/td>Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SLC25A19<\/td>606521<\/td>Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SLC25A20<\/td>613698<\/td>Carnitine-acylcarnitine translocase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SLC25A22<\/td>609302<\/td>Epileptic encephalopathy, early infantile, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SLC25A26<\/td>611037<\/td>Combined oxidative phosphorylation deficiency 28<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>SLC25A3<\/td>600370<\/td>Mitochondrial phosphate carrier deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SLC25A38<\/td>610819<\/td>Anemia, sideroblastic, type 2, pyridoxine-refractory<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SLC25A4<\/td>103220<\/td>Mitochondrial DNA depletion syndrome, type 12B (cardiomyopathic type) AR<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SLC25A46<\/td>610826<\/td>Neuropathy, hereditary motor and sensory, type VIB<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SLC26A2<\/td>606718<\/td>Achondrogenesis Ib; Atelosteogenesis, type II;De la Chapelle dysplasia; Diastrophic dysplasia;Diastrophic dysplasia, broad bone-platyspondylic variant;Epiphyseal dysplasia, multiple, 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SLC26A3<\/td>126650<\/td>Diarrhea 1, secretory chloride, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SLC26A4<\/td>605646<\/td>Deafness, autosomal recessive, type 4; Pendred syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SLC26A5<\/td>604943<\/td>?Deafness, autosomal recessive, type 61<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>SLC27A4<\/td>604194<\/td>Ichthyosis prematurity syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>SLC29A3<\/td>612373<\/td>Histiocytosis-lymphadenopathy plus syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SLC2A1<\/td>138140<\/td>GLUT1 deficiency syndrome 1, infantile onset, severe<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        20<\/td>SLC2A10<\/td>606145<\/td>Arterial tortuosity syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SLC2A2<\/td>138160<\/td>Fanconi-Bickel syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SLC2A9<\/td>606142<\/td>Hypouricemia, renal, type 2<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        1<\/td>SLC30A10<\/td>611146<\/td>Hypermanganesemia with dystonia, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SLC33A1<\/td>603690<\/td>Congenital cataracts, hearing loss, and neurodegeneration<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SLC34A1<\/td>182309<\/td>Hypercalcemia, infantile, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SLC34A2<\/td>604217<\/td>Pulmonary alveolar microlithiasis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>SLC34A3<\/td>609826<\/td>Hypophosphatemic rickets with hypercalciuria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>SLC35A1<\/td>605634<\/td>Congenital disorder of glycosylation, type 2F<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SLC35A3<\/td>605632<\/td>Arthrogryposis, impaired intellectual development, and seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SLC35C1<\/td>605881<\/td>Congenital disorder of glycosylation, type 2C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SLC35D1<\/td>610804<\/td>Schneckenbecken dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SLC37A4<\/td>602671<\/td>Glycogen storage disease, type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>SLC38A8<\/td>615585<\/td>Foveal hypoplasia 2, with or without optic nerve misrouting and\/or anterior segment dysgenesis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SLC39A13<\/td>608735<\/td>Ehlers-Danlos syndrome, spondylodysplastic type, 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>SLC39A14<\/td>608736<\/td>Hypermanganesemia with dystonia 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>SLC39A4<\/td>607059<\/td>Acrodermatitis enteropathica<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SLC39A8<\/td>608732<\/td>Congenital disorder of glycosylation, type IIn<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SLC3A1<\/td>104614<\/td>Cystinuria<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        1<\/td>SLC45A1<\/td>605763<\/td>Intellectual developmental disorder with neuropsychiatric features<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SLC45A2<\/td>606202<\/td>Albinism, oculocutaneous, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SLC46A1<\/td>611672<\/td>Folate malabsorption, hereditary<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SLC4A1<\/td>109270<\/td>Distal renal tubular acidosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>SLC4A11<\/td>610206<\/td>Corneal endothelial dystrophy, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SLC4A4<\/td>603345<\/td>Renal tubular acidosis, proximal, with ocular abnormalities<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>SLC52A2<\/td>607882<\/td>Brown-Vialetto-Van Laere syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>SLC52A3<\/td>613350<\/td>Brown-Vialetto-Van Laere syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>SLC5A1<\/td>182380<\/td>Glucose\/galactose malabsorption<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>SLC5A2<\/td>182381<\/td>Renal glucosuria<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        19<\/td>SLC5A5<\/td>601843<\/td>Thyroid dyshormonogenesis, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SLC5A7<\/td>608761<\/td>Myasthenic syndrome, congenital, type 20, presynaptic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SLC6A17<\/td>610299<\/td>Mental retardation, autosomal recessive 48<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SLC6A19<\/td>608893<\/td>Hartnup disorder<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SLC6A3<\/td>126455<\/td>Parkinsonism-dystonia, infantile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SLC6A5<\/td>604159<\/td>Hyperekplexia, type 3<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        X<\/td>SLC6A8<\/td>300036<\/td>Cerebral creatine deficiency syndrome, type 1<\/td>X-linked<\/td>\n<\/tr>\n
        1<\/td>SLC6A9<\/td>601019<\/td>Glycine encephalopathy with normal serum glycine<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SLC7A14<\/td>615720<\/td>Retinitis pigmentosa 68<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>SLC7A7<\/td>603593<\/td>Lysinuric protein intolerance<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SLC7A9<\/td>604144<\/td>Cystinuria<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        5<\/td>SLC9A3<\/td>182307<\/td>Diarrhea 8, secretory sodium, congenital<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SLCO2A1<\/td>601460<\/td>Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>SLITRK6<\/td>609681<\/td>Deafness and myopia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>SLURP1<\/td>606119<\/td>Meleda disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>SLX4<\/td>613278<\/td>Fanconi anemia, complementation group P<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SMARCAL1<\/td>606622<\/td>Schimke immunoosseous dysplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SMARCD2<\/td>601736<\/td>Specific granule deficiency 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SMG9<\/td>613176<\/td>Heart and brain malformation syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SMN1<\/td>600354<\/td>Spinal muscular atrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>SMOC1<\/td>608488<\/td>Microphthalmia. with limb anomalies<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>SMOC2<\/td>607223<\/td>Dentin dysplasia, type 1, with microdontia and misshapen teeth<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SMPD1<\/td>607608<\/td>Niemann-Pick disease, type A; Niemann-Pick disease, type B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>SNAP29<\/td>604202<\/td>Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SNX10<\/td>614780<\/td>Osteopetrosis, autosomal recessive, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>SNX14<\/td>616105<\/td>Spinocerebellar ataxia, autosomal recessive, type 20<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>SOBP<\/td>613667<\/td>Mental retardation, anterior maxillary protrusion, and strabismus<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>SOD1<\/td>147450<\/td>Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclerosis, type 1<\/td>Autosomal recessive; Autosomal recessive*<\/td>\n<\/tr>\n
        9<\/td>SOHLH1<\/td>610224<\/td>Ovarian dysgenesis 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>SOST<\/td>605740<\/td>Sclerosteosis, type 1; Van Buchem disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>SOX18<\/td>601618<\/td>Hypotrichosis-lymphedema-telangiectasia syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SP110<\/td>604457<\/td>Hepatic venoocclusive disease with immunodeficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>SP7<\/td>606633<\/td>Osteogenesis imperfecta, type XII<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>SPAG1<\/td>603395<\/td>Ciliary dyskinesia, primary, type 28<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SPARC<\/td>182120<\/td>Osteogenesis imperfecta, type XVII<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>SPART<\/td>607111<\/td>Spactic paraplegia, type 20, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SPATA5<\/td>613940<\/td>Epilepsy, hearing loss, and mental retardation syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>SPATA7<\/td>609868<\/td>Leber congenital amaurosis, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SPEG<\/td>615950<\/td>Centronuclear myopathy, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>SPG11<\/td>610844<\/td>Amyotrophic lateral sclerosis 5, juvenile; Charcot-Marie-Tooth disease, axonal, type 2X; Spastic paraplegia 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>SPG21<\/td>608181<\/td>Mast syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>SPG7<\/td>602783<\/td>Spastic paraplegia, type 7, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SPINK1<\/td>167790<\/td>Tropical calcific pancreatitis<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        5<\/td>SPINK5<\/td>605010<\/td>Netherton syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SPINT2<\/td>605124<\/td>Diarrhea 3, secretory sodium, congenital, syndromic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SPR<\/td>182125<\/td>Dystonia, dopa-responsive, due to sepiapterin reductase deficiency<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        1<\/td>SPRTN<\/td>616086<\/td>Ruijs-Aalfs syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SPTA1<\/td>182860<\/td>Pyropoikilocytosis; Spherocytosis, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>SPTBN2<\/td>604985<\/td>Spinocerebellar ataxia, autosomal recessive, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SPTBN4<\/td>606214<\/td>Neurodevelopmental disorder with hypotonia, neuropathy, and deafness<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>SQSTM1<\/td>601530<\/td>Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SRD5A2<\/td>607306<\/td>46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>SRD5A3<\/td>611715<\/td>Congenital disorder of glycosylation, type 1Q; Kahrizi syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ST14<\/td>606797<\/td>Ichthyosis, congenital, autosomal recessive, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ST3GAL3<\/td>606494<\/td>Mental retardation, autosomal recessive 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ST3GAL5<\/td>604402<\/td>Salt and pepper developmental regression syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>STAC3<\/td>615521<\/td>Native American myopathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>STAG3<\/td>608489<\/td>Premature ovarian failure, type 8; Spermatogenic failure 61<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>STAMBP<\/td>606247<\/td>Microcephaly-capillary malformation syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>STAR<\/td>600617<\/td>Lipoid adrenal hyperplasia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>STAT1<\/td>600555<\/td>Immunodeficiency, type 31B, mycobacterial and viral infections<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>STAT2<\/td>600556<\/td>Immunodeficiency, type 44<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>STAT5B<\/td>604260<\/td>Laron syndrome with immunodeficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>STIL<\/td>181590<\/td>Microcephaly, type 7, primary, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>STIM1<\/td>605921<\/td>Immunodeficiency, type 10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>STK4<\/td>604965<\/td>T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>STRA6<\/td>610745<\/td>Microphthalmia, isolated, with coloboma, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>STRADA<\/td>608626<\/td>Polyhydramnios, megalencephaly, and symptomatic epilepsy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>STRC<\/td>606440<\/td>Deafness, autosomal recessive, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>STUB1<\/td>607207<\/td>Spinocerebellar ataxia, autosomal recessive, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>STX11<\/td>605014<\/td>Hemophagocytic lymphohistiocytosis, familial, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>STXBP2<\/td>601717<\/td>Hemophagocytic lymphohistiocytosis, familial, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>SUCLA2<\/td>603921<\/td>Mitochondrial DNA depletion syndrome, type 5 (encephalomyopathic with or without methylmalonic aciduria)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>SUCLG1<\/td>611224<\/td>Mitochondrial DNA depletion syndrome, type 9 (encephalomyopathic, type with methylmalonic aciduria)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>SUFU<\/td>607035<\/td>Joubert syndrome, type 32<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>SUGCT<\/td>609187<\/td>Glutaric aciduria, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SULT2B1<\/td>604125<\/td>Ichthyosis, congenital, autosomal recessive, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>SUMF1<\/td>607939<\/td>Multiple sulfatase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>SUN5<\/td>613942<\/td>Spermatogenic failure, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>SUOX<\/td>606887<\/td>Sulfite oxidase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>SURF1<\/td>185620<\/td>Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease, type 4K<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>SYN1<\/td>313440<\/td>Epilepsy, X-linked, with variable learning disabilities and behavior disorders<\/td>X-linked<\/td>\n<\/tr>\n
        6<\/td>SYNE1<\/td>608441<\/td>Spinocerebellar ataxia, autosomal recessive, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>SYNE4<\/td>615535<\/td>Deafness, autosomal recessive, type 76<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>SYNJ1<\/td>604297<\/td>Epileptic encephalopathy, early infantile, 53<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SYT14<\/td>610949<\/td>?Spinocerebellar ataxia, autosomal recessive, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>SZT2<\/td>615463<\/td>Epileptic encephalopathy, early infantile, 18<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>TAC3<\/td>162330<\/td>Hypogonadotropic hypogonadism, type 10, with or without anosmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TACO1<\/td>612958<\/td>Mitochondrial complex IV deficiency, nuclear type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TACR3<\/td>162332<\/td>Hypogonadotropic hypogonadism, type 11, with or without anosmia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TACSTD2<\/td>137290<\/td>Corneal dystrophy, gelatinous drop-like<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TAF13<\/td>600774<\/td>Mental retardation, autosomal recessive 60<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TAF2<\/td>604912<\/td>Mental retardation, autosomal recessive 40<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>TAF6<\/td>602955<\/td>Alazami-Yuan syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TALDO1<\/td>602063<\/td>Transaldolase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TANGO2<\/td>616830<\/td>Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TAP1<\/td>170260<\/td>Bare lymphocyte syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TAP2<\/td>170261<\/td>Bare lymphocyte syndrome, type 1, due to TAP2 deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TAPBP<\/td>601962<\/td>Bare lymphocyte syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TAPT1<\/td>612758<\/td>Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>TAT<\/td>613018<\/td>Tyrosinemia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>TBC1D20<\/td>611663<\/td>Warburg micro syndrome 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TBC1D23<\/td>617687<\/td>Pontocerebellar hypoplasia, type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>TBC1D24<\/td>613577<\/td>DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome; Epileptic encephalopathy, early infantile, type 16; Deafness, autosomal recessive, type 86<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TBC1D7<\/td>612655<\/td>Macrocephaly\/megalencephaly syndrome, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TBCD<\/td>604649<\/td>Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TBCE<\/td>604934<\/td>Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TBCK<\/td>616899<\/td>Hypotonia, infantile, with psychomotor retardation and characteristic facies 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TBX15<\/td>604127<\/td>Cousin syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TBX19<\/td>604614<\/td>Congenital isolated adrenocorticotropic hormone deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>TBXAS1<\/td>274180<\/td>Ghosal syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TCAP<\/td>604488<\/td>Limb-girdle muscular dystrophy, type 7 (LGMD R7)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TCIRG1<\/td>604592<\/td>Osteopetrosis, autosomal recessive, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TCN2<\/td>613441<\/td>Transcobalamin II deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>TCTN1<\/td>609863<\/td>Joubert syndrome, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>TCTN2<\/td>613846<\/td>Joubert syndrome, type 24; ?Meckel syndrome, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>TCTN3<\/td>613847<\/td>Joubert syndrome 18; Orofaciodigital syndrome IV<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TDP1<\/td>607198<\/td>?Spinocerebellar ataxia, autosomal recessive with axonal neuropathy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TDP2<\/td>605764<\/td>Spinocerebellar ataxia, autosomal recessive, type 23<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>TDRD7<\/td>611258<\/td>Cataract 36<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TECPR2<\/td>615000<\/td>Spastic paraplegia, type 49, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>TECR<\/td>610057<\/td>Mental retardation, autosomal recessive, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TECRL<\/td>617242<\/td>Ventricular tachycardia, catecholaminergic polymorphic, 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TECTA<\/td>602574<\/td>Deafness, autosomal recessive, type 21<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>TELO2<\/td>611140<\/td>You-Hoover-Fong syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TENM3<\/td>610083<\/td>Microphthalmia, isolated, with coloboma 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>TERT<\/td>187270<\/td>Dyskeratosis congenita, autosomal recessive, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TEX15<\/td>605795<\/td>Spermatogenic failure, type 25<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TF<\/td>190000<\/td>Atransferrinemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>TFR2<\/td>604720<\/td>Hemochromatosis, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TFRC<\/td>190010<\/td>Immunodeficiency, type 46<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TG<\/td>188450<\/td>Thyroid dyshormonogenesis, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>TGDS<\/td>616146<\/td>Catel-Manzke syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TGM1<\/td>190195<\/td>Ichthyosis, congenital, autosomal recessive, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>TGM5<\/td>603805<\/td>Peeling skin syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TH<\/td>191290<\/td>Segawa syndrome, recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>THOC2<\/td>300395<\/td>Mental retardation, X-linked 12<\/td>X-linked<\/td>\n<\/tr>\n
        16<\/td>THOC6<\/td>615403<\/td>Beaulieu-Boycott-Innes syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>THRB<\/td>190160<\/td>Thyroid hormone resistance, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>TIMM50<\/td>607381<\/td>3-methylglutaconic aciduria, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TIMMDC1<\/td>615534<\/td>Mitochondrial complex I deficiency, nuclear type 31<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>TJP2<\/td>607709<\/td>Cholestasis, progressive familial intrahepatic 4; Hypercholanemia, familial 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>TK2<\/td>188250<\/td>Mitochondrial DNA depletion syndrome , type 2 (myopathic type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TKT<\/td>606781<\/td>Short stature, developmental delay, and congenital heart defects<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>TLE6<\/td>612399<\/td>Preimplantation embryonic lethality<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>TMC1<\/td>606706<\/td>Deafness, autosomal recessive, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TMC6<\/td>605828<\/td>Epidermodysplasia verruciformis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TMC8<\/td>605829<\/td>Epidermodysplasia verruciformis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TMCO1<\/td>614123<\/td>Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TMEM107<\/td>616183<\/td>Meckel syndrome, type 13; Orofaciodigital syndrome, type 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TMEM126A<\/td>612988<\/td>Optic atrophy 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TMEM126B<\/td>615533<\/td>Mitochondrial complex I deficiency, nuclear type 29<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TMEM138<\/td>614459<\/td>Joubert syndrome 16<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TMEM165<\/td>614726<\/td>Congenital disorder of glycosylation, type 2K<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TMEM199<\/td>616815<\/td>Congenital disorder of glycosylation, type 2P<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TMEM216<\/td>613277<\/td>Joubert syndrome, type 2; Meckel syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>TMEM231<\/td>614949<\/td>Joubert syndrome, type 20; Meckel syndrome,type 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>TMEM237<\/td>614423<\/td>Joubert syndrome, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TMEM260<\/td>617449<\/td>Structural heart defects and renal anomalies syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TMEM67<\/td>609884<\/td>Meckel syndrome 3; COACH syndrome 1; Joubert syndrome 6; Nephronophthisis 11<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TMEM70<\/td>612418<\/td>Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TMIE<\/td>607237<\/td>Deafness, autosomal recessive, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>TMPRSS15<\/td>606635<\/td>Enterokinase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        21<\/td>TMPRSS3<\/td>605511<\/td>Deafness, autosomal recessive, type 8\/10<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TMPRSS6<\/td>609862<\/td>Iron-refractory iron deficiency anemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>TMTC3<\/td>617218<\/td>Lissencephaly 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>TNFRSF11A<\/td>603499<\/td>Osteopetrosis, autosomal recessive, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TNFRSF11B<\/td>602643<\/td>Paget disease of bone, type 5, juvenile-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TNFRSF13B<\/td>604907<\/td>Immunodeficiency, common variable, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>TNFSF11<\/td>602642<\/td>Osteopetrosis, autosomal recessive, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TNIK<\/td>610005<\/td>Mental retardation, autosomal recessive 54<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>TNNT1<\/td>191041<\/td>Nemaline myopathy , type 5, Amish type<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TNXB<\/td>600985<\/td>Ehlers-Danlos syndrome, classic-like<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TOE1<\/td>613931<\/td>Pontocerebellar hypoplasia, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TOP3A<\/td>601243<\/td>Microcephaly, growth restriction, and increased sister chromatid exchange 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        20<\/td>TP53RK<\/td>608679<\/td>Galloway-Mowat syndrome 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>TPI1<\/td>190450<\/td>Hemolytic anemia due to triosephosphate isomerase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>TPK1<\/td>606370<\/td>Episodic encephalopathy due to thiamine pyrophosphokinase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TPM3<\/td>191030<\/td>Nemaline myopathy, type 1; Congenital fiber-type disproportion myopathy<\/td>Autosomal recessive*<\/td>\n<\/tr>\n
        2<\/td>TPO<\/td>606765<\/td>Thyroid dyshormonogenesis, type 2A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TPP1<\/td>607998<\/td>Ceroid lipofuscinosis, neuronal, type 2; Spinocerebellar ataxia, autosomal recessive, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>TPRN<\/td>613354<\/td>Deafness, autosomal recessive, type 79<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>TRAF3IP1<\/td>607380<\/td>Senior-Loken syndrome, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TRAIP<\/td>605958<\/td>Seckel syndrome, type 9<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TRAPPC11<\/td>614138<\/td>Limb-girdle muscular dystrophy, type 18 (LGMD R18)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>TRAPPC12<\/td>614139<\/td>Encephalopathy, progressive, early-onset, with brain atrophy and spasticity<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TRAPPC6B<\/td>610397<\/td>Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TRAPPC9<\/td>611966<\/td>Mental retardation, autosomal recessive, type 13<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TRDN<\/td>603283<\/td>Ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TREM2<\/td>605086<\/td>Nasu-Hakola disease<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TREX1<\/td>606609<\/td>Aicardi-Goutieres syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TRHR<\/td>188545<\/td>Hypothyroidism, congenital, nongoitrous, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TRIM2<\/td>614141<\/td>Charcot-Marie-Tooth disease, type 2R<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>TRIM32<\/td>602290<\/td>Limb-girdle muscular dystrophy, type 8 (LGMD R8)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TRIM37<\/td>605073<\/td>Mulibrey nanism<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TRIOBP<\/td>609761<\/td>Deafness, autosomal recessive, type 28<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TRIP11<\/td>604505<\/td>Achondrogenesis, type 1A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>TRIP13<\/td>604507<\/td>Mosaic variegated aneuploidy syndrome 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>TRIP4<\/td>604501<\/td>Spinal muscular atrophy with congenital bone fractures 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TRIT1<\/td>617840<\/td>Combined oxidative phosphorylation deficiency 35<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>TRMT10A<\/td>616013<\/td>Microcephaly, short stature, and impaired glucose metabolism 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TRMT10C<\/td>615423<\/td>Combined oxidative phosphorylation deficiency 30<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TRMT5<\/td>611023<\/td>Combined oxidative phosphorylation deficiency 26<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TRMU<\/td>610230<\/td>Liver failure, transient infantile<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TRNT1<\/td>612907<\/td>Retinitis pigmentosa and erythrocytic microcytosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>TRPM1<\/td>603576<\/td>Night blindness, congenital stationary (complete), type 1C, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>TRPM6<\/td>607009<\/td>Familial hypomagnesemia with secondary hypocalcemia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>TRPV6<\/td>606680<\/td>Hyperparathyroidism, transient neonatal<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TSEN15<\/td>608756<\/td>Pontocerebellar hypoplasia, type 2F<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>TSEN2<\/td>608753<\/td>Pontocerebellar hypoplasia, type 2B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>TSEN34<\/td>608754<\/td>Pontocerebellar hypoplasia type 2C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TSEN54<\/td>608755<\/td>Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>TSFM<\/td>604723<\/td>Combined oxidative phosphorylation deficiency, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>TSHB<\/td>188540<\/td>Hypothyroidism, congenital, nongoitrous, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TSHR<\/td>603372<\/td>Hypothyroidism, congenital, nongoitrous, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>TTC19<\/td>613814<\/td>Mitochondrial complex III deficiency, nuclear type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>TTC21B<\/td>612014<\/td>Short-rib thoracic dysplasia, type 4, with or without polydactyly<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>TTC7A<\/td>609332<\/td>Gastrointestinal defects and immunodeficiency syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TTC8<\/td>608132<\/td>Bardet-Biedl syndrome, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TTI2<\/td>614426<\/td>Mental retardation, autosomal recessive, type 39<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>TTLL5<\/td>612268<\/td>Cone-rod dystrophy 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>TTN<\/td>188840<\/td>Limb-girdle muscular dystrophy type 10 (LGMDR10); Early-onset myopathy with fatal cardiomyopathy (Salih myopathy)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TTPA<\/td>600415<\/td>Ataxia with isolated vitamin E deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TUBA8<\/td>605742<\/td>Cortical dysplasia, complex, with other brain malformations, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>TUBGCP4<\/td>609610<\/td>Microcephaly and chorioretinopathy, autosomal recessive, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TUBGCP6<\/td>610053<\/td>Microcephaly and chorioretinopathy, autosomal recessive, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>TUFM<\/td>602389<\/td>Combined oxidative phosphorylation deficiency 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>TULP1<\/td>602280<\/td>Retinitis pigmentosa 14; Leber congenital amaurosis 15<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>TUSC3<\/td>601385<\/td>Mental retardation, autosomal recessive, type 7<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>TWIST2<\/td>607556<\/td>Focal facial dermal dysplasia, type 3 (Setleis type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>TWNK<\/td>606075<\/td>Mitochondrial DNA depletion syndrome, type 7 (hepatocerebral type); Perrault syndrome type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        18<\/td>TXNL4A<\/td>611595<\/td>Burn-McKeown syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>TYK2<\/td>176941<\/td>Immunodeficiency, type 35<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>TYMP<\/td>131222<\/td>Mitochondrial DNA depletion syndrome, type 1 (MNGIE type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>TYR<\/td>606933<\/td>Oculocutaneous albinism (OCA) type 1A; OCA type 1B<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>TYROBP<\/td>604142<\/td>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, type 1 (Nasu-Hakola disease)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>TYRP1<\/td>115501<\/td>Albinism, oculocutaneous, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>UBA5<\/td>610552<\/td>Epileptic encephalopathy, early infantile, 44<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>UBE2T<\/td>610538<\/td>Fanconi anemia, complementation group T<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>UBE3A<\/td>601623<\/td>Angelman syndrome<\/td>Autosomal dominant*<\/td>\n<\/tr>\n
        12<\/td>UBE3B<\/td>608047<\/td>Kaufman oculocerebrofacial syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>UBR1<\/td>605981<\/td>Johanson-Blizzard syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>UCHL1<\/td>191342<\/td>Spastic paraplegia, type 79, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        13<\/td>UFM1<\/td>610553<\/td>Leukodystrophy, hypomyelinating, type 14<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>UGT1A1<\/td>191740<\/td>Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>UMPS<\/td>613891<\/td>Orotic aciduria<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>UNC13D<\/td>608897<\/td>Hemophagocytic lymphohistiocytosis, familial, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>UNC80<\/td>612636<\/td>Hypotonia, infantile, with psychomotor retardation and characteristic facies, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>UNG<\/td>191525<\/td>Immunodeficiency with hyper IgM, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>UPB1<\/td>606673<\/td>Beta-ureidopropionase deficiency<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>UPF3B<\/td>300298<\/td>Mental retardation, X-linked, syndromic, type 14<\/td>X-linked<\/td>\n<\/tr>\n
        8<\/td>UQCRB<\/td>191330<\/td>Mitochondrial complex III deficiency, nuclear, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>UQCRC2<\/td>191329<\/td>Mitochondrial complex III deficiency, nuclear type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>UQCRQ<\/td>612080<\/td>Mitochondrial complex III deficiency, nuclear, type 4<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>UROD<\/td>613521<\/td>Porphyria cutanea tarda<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        10<\/td>UROS<\/td>606938<\/td>Porphyria, congenital erythropoietic<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>USB1<\/td>613276<\/td>Poikiloderma with neutropenia<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>USH1C<\/td>605242<\/td>Usher syndrome, type 1C; Deafness, autosomal recessive, type 18A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>USH1G<\/td>607696<\/td>Usher syndrome, type 1G<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>USH2A<\/td>608400<\/td>Usher syndrome, type 2A; Retinitis pigmentosa 39<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>USP18<\/td>607057<\/td>Pseudo-TORCH syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>UVSSA<\/td>614632<\/td>UV-sensitive syndrome, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>VAC14<\/td>604632<\/td>Striatonigral degeneration, childhood-onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>VARS1<\/td>192150<\/td>Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>VARS2<\/td>612802<\/td>Combined oxidative phosphorylation deficiency 20<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>VDR<\/td>601769<\/td>Rickets, vitamin D-resistant, type 2A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>VIPAS39<\/td>613401<\/td>Arthrogryposis, renal dysfunction and cholestasis, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>VKORC1<\/td>608547<\/td>Vitamin K-dependent clotting factors, combined deficiency of, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>VLDLR<\/td>192977<\/td>Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>VPS13A<\/td>605978<\/td>Choreoacanthocytosis<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>VPS13B<\/td>607817<\/td>Cohen syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>VPS13C<\/td>608879<\/td>Parkinson disease 23, autosomal recessive, early onset<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>VPS33B<\/td>608552<\/td>Arthrogryposis, renal dysfunction and cholestasis, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>VPS37A<\/td>609927<\/td>Spastic paraplegia, type 53, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>VPS45<\/td>610035<\/td>Neutropenia, severe congenital, type 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>VPS53<\/td>615850<\/td>Pontocerebellar hypoplasia, type 2E<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>VRK1<\/td>602168<\/td>Pontocerebellar hypoplasia, type 1A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>VSX2<\/td>142993<\/td>Microphthalmia with coloboma 3; Isolated microphthalmia 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>VWF<\/td>613160<\/td>von Willibrand disease, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>WARS2<\/td>604733<\/td>Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>WAS<\/td>300392<\/td>Wiskott-Aldrich syndrome; Thrombocytopenia, X-linked<\/td>X-linked<\/td>\n<\/tr>\n
        12<\/td>WASHC4<\/td>615748<\/td>?Mental retardation, autosomal recessive, type 43<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>WASHC5<\/td>610657<\/td>Ritscher-Schinzel syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>WDR19<\/td>608151<\/td>Nephronophthisis, type 13; Senior-Loken syndrome, type 8<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>WDR35<\/td>613602<\/td>Cranioectodermal dysplasia 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>WDR45B<\/td>609226<\/td>Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        19<\/td>WDR62<\/td>613583<\/td>Microcephaly, type 2, primary, autosomal recessive, with or without cortical malformations<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>WDR72<\/td>613214<\/td>Amelogenesis imperfecta, type 2A3 (hypomaturation type)<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        15<\/td>WDR73<\/td>616144<\/td>Galloway-Mowat syndrome 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>WDR81<\/td>614218<\/td>Cerebellar ataxia, mental retardation, and dysequilibrium syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        7<\/td>WEE2<\/td>614084<\/td>Oocyte maturation defect 5<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        4<\/td>WFS1<\/td>606201<\/td>Wolfram syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>WHRN<\/td>607928<\/td>Usher syndrome, type 2D; Deafness, autosomal recessive, type 31<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>WIPF1<\/td>602357<\/td>?Wiskott-Aldrich syndrome 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>WNK1<\/td>605232<\/td>Neuropathy, hereditary sensory and autonomic, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>WNT1<\/td>164820<\/td>Osteogenesis imperfecta, type XV<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>WNT10A<\/td>606268<\/td>WNT10A-related conditions<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>WNT10B<\/td>601906<\/td>Split-hand\/foot malformation, type 6<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>WNT3<\/td>165330<\/td>?Tetra-amelia syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>WNT7A<\/td>601570<\/td>Fuhrmann syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>WRAP53<\/td>612661<\/td>Dyskeratosis congenita, autosomal recessive, type 3<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        8<\/td>WRN<\/td>604611<\/td>Werner syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>WWOX<\/td>605131<\/td>Epileptic encephalopathy, early infantile, type 28; Spinocerebellar ataxia, autosomal recessive, type 12<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>XDH<\/td>607633<\/td>Xanthinuria, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        9<\/td>XPA<\/td>611153<\/td>Xeroderma pigmentosum, group A<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>XPC<\/td>613208<\/td>Xeroderma pigmentosum, group C<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        22<\/td>XPNPEP3<\/td>613553<\/td>Nephronophthisis-like nephropathy, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        5<\/td>XRCC4<\/td>194363<\/td>Short stature, microcephaly, and endocrine dysfunction<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>XYLT1<\/td>608124<\/td>Desbuquois dysplasia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        17<\/td>XYLT2<\/td>608125<\/td>Spondyloocular syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        12<\/td>YARS2<\/td>610957<\/td>Myopathy, lactic acidosis, and sideroblastic anemia, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>YY1AP1<\/td>607860<\/td>Grange syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        2<\/td>ZAP70<\/td>176947<\/td>Autoimmune disease, multisystem, infantile-onset, type 2; Immunodeficiency, type 48<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ZBTB16<\/td>176797<\/td>Skeletal defects, genital hypoplasia, and mental retardation<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        6<\/td>ZBTB24<\/td>614064<\/td>Immunodeficiency-centromeric instability-facial anomalies syndrome, type 2<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        14<\/td>ZC3H14<\/td>613279<\/td>Mental retardation, autosomal recessive, type 56<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>ZDHHC9<\/td>300646<\/td>Mental retardation, X-linked syndromic, Raymond type<\/td>X-linked<\/td>\n<\/tr>\n
        14<\/td>ZFYVE26<\/td>612012<\/td>Spastic paraplegia, type 15, autosomal recessive<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        1<\/td>ZMPSTE24<\/td>606480<\/td>Mandibuloacral dysplasia with, type B lipodystrophy<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        3<\/td>ZMYND10<\/td>607070<\/td>Ciliary dyskinesia, primary, type 22<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ZNF408<\/td>616454<\/td>Retinitis pigmentosa, type 72<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ZNF423<\/td>604557<\/td>Joubert syndrome, type 19<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        16<\/td>ZNF469<\/td>612078<\/td>Brittle cornea syndrome, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        X<\/td>ZNF711<\/td>314990<\/td>Mental retardation, X-linked, type 97<\/td>X-linked<\/td>\n<\/tr>\n
        17<\/td>ZNHIT3<\/td>604500<\/td>PEHO syndrome<\/td>Autosomal recessive<\/td>\n<\/tr>\n
        11<\/td>ZP1<\/td>195000<\/td>Oocyte maturation defect, type 1<\/td>Autosomal recessive<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\n<\/div>\n<\/div>\n
        \n