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ID	GENO:0000148
Name	autosomal recessive inheritance
Parent Relationships	is_a autosomal inheritance
Related Diseases	null arrhythmogenic right ventricular dysplasia 11 has material basis in bradyopsia xeroderma pigmentosum mulibrey nanism Usher syndrome mucosulfatidosis Gitelman syndrome Antley-Bixler syndrome with disordered steroidogenesis Donohue syndrome Alstrom syndrome Netherton syndrome nonphotosensitive trichothiodystrophy 4 adult spinal muscular atrophy intermediate spinal muscular atrophy Charcot-Marie-Tooth disease type 3 congenital adrenal insufficiency proteasome-associated autoinflammatory syndrome 1 Ullrich congenital muscular dystrophy Fukuyama congenital muscular dystrophy Walker-Warburg syndrome autosomal recessive nonsyndromic deafness Seckel syndrome Senior-Loken syndrome cranioectodermal dysplasia glycogen storage disease XV congenital generalized lipodystrophy muscular dystrophy-dystroglycanopathy type B1 ABCD syndrome triple-A syndrome acheiropody acrocapitofemoral dysplasia oculocutaneous albinism alopecia universalis anauxetic dysplasia 1 atransferrinemia pseudo-TORCH syndrome 1 Bjornstad syndrome Athabaskan brainstem dysgenesis syndrome Bowen-Conradi syndrome 3-methylcrotonyl-CoA carboxylase deficiency aceruloplasminemia AGAT deficiency cerebral folate receptor alpha deficiency autosomal recessive disease ARC syndrome choreaacanthocytosis rapadilino syndrome hydrolethalus syndrome fibular hypoplasia and complex brachydactyly achalasia microcephaly syndrome peroxisomal acyl-CoA oxidase deficiency Ehlers-Danlos syndrome spondylodysplastic type 2 Kahrizi syndrome spondyloepimetaphyseal dysplasia, Pakistani type temtamy preaxial brachydactyly syndrome urofacial syndrome Perrault syndrome infantile cerebellar-retinal degeneration Troyer syndrome spastic ataxia 2 spastic ataxia 3 spastic ataxia 4 spastic ataxia 5 autosomal recessive hypophosphatemic rickets autosomal recessive cerebellar ataxia cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome congenital dyserythropoietic anemia type IIIb congenital nonspherocytic hemolytic anemia 3 congenital nonspherocytic hemolytic anemia 4 congenital nonspherocytic hemolytic anemia 5 congenital nonspherocytic hemolytic anemia 8 visceral heterotaxy 6 visceral heterotaxy 7 visceral heterotaxy 8 visceral heterotaxy 9 visceral heterotaxy 10 visceral heterotaxy 11 visceral heterotaxy 12 visceral heterotaxy 13 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis neurodevelopmental disorder with microcephaly, absent speech, and hypotonia primary autosomal recessive microcephaly 20 primary autosomal recessive microcephaly 21 primary autosomal recessive microcephaly 22 primary autosomal recessive microcephaly 23 primary autosomal recessive microcephaly 24 primary autosomal recessive microcephaly 25 primary autosomal recessive microcephaly 28 primary autosomal recessive microcephaly 29 primary autosomal recessive microcephaly 30 infantile-onset myofibrillar myopathy 12 with cardiomyopathy congenital disorder of glycosylation type IIbb congenital disorder of glycosylation type IIt congenital disorder of glycosylation type IIv congenital disorder of glycosylation type IIy congenital disorder of glycosylation type IIz CD3epsilon deficiency CD3gamma deficiency reticular dysgenesis DNA ligase IV deficiency immunodeficiency with hyper IgM type 3 immunoglobulin alpha deficiency agammaglobulinemia 4 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 amyotrophic lateral sclerosis type 1 3MC syndrome xanthinuria Warburg micro syndrome Van Maldergem syndrome UV-sensitive syndrome 3-M syndrome pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 2E peeling skin syndrome cold-induced sweating syndrome congenital secretory chloride diarrhea 1 autosomal recessive intellectual developmental disorder CEDNIK syndrome Native American myopathy acrorenal syndrome hypoparathyroidism-retardation-dysmorphism syndrome adenine phosphoribosyltransferase deficiency Vici syndrome Galloway-Mowat syndrome 1 Parkinson's disease 2 Parkinson's disease 6 Parkinson's disease 7 Parkinson's disease 15 orofaciodigital syndrome III orofaciodigital syndrome IV orofaciodigital syndrome V orofaciodigital syndrome IX gelatinous drop-like corneal dystrophy salt and pepper syndrome familial erythrocytosis 2 Goldberg-Shprintzen syndrome EAST syndrome Schimke immuno-osseous dysplasia SPOAN syndrome Warsaw breakage syndrome poikiloderma with neutropenia Kufor-Rakeb syndrome lethal congenital contracture syndrome Ritscher-Schinzel syndrome 1 Noonan syndrome 2 Yunis-Varon syndrome XFE progeroid syndrome alpha-2-plasmin inhibitor deficiency microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II neonatal diabetes mellitus with congenital hypothyroidism permanent neonatal diabetes mellitus endocrine-cerebro-osteodysplasia syndrome recessive dystrophic epidermolysis bullosa fetal encasement syndrome congenital hereditary endothelial dystrophy of cornea dicarboxylic aminoaciduria autosomal recessive congenital ichthyosis atrichia with papular lesions platelet-type bleeding disorder 8 hyperekplexia 1 hyperekplexia 2 hyperekplexia 3 lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 congenital disorder of deglycosylation 1 junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa non-Herlitz type Pendred Syndrome familial temporal lobe epilepsy 5 sclerosteosis 1 sclerosteosis 2 immunodeficiency with hyper-IgM type 2 immunodeficiency with hyper IgM type 5 autosomal recessive Robinow syndrome T-cell immunodeficiency, congenital alopecia, and nail dystrophy cleft lip-palate-ectodermal dysplasia syndrome microvillus inclusion disease congenital diarrhea 5 with tufting enteropathy congenital secretory sodium diarrhea 8 congenital diarrhea 7 with exudative enteropathy congenital malabsorptive diarrhea 4 congenital secretory sodium diarrhea 3 hypomyelinating leukodystrophy 2 hypomyelinating leukodystrophy 10 hypomyelinating leukodystrophy 4 hypomyelinating leukodystrophy 3 hypomyelinating leukodystrophy 9 hypomyelinating leukodystrophy 11 hypomyelinating leukodystrophy 5 hypomyelinating leukodystrophy 7 hypomyelinating leukodystrophy 13 hypomyelinating leukodystrophy 12 hypomyelinating leukodystrophy 8 Griscelli syndrome isolated microphthalmia 6 isolated microphthalmia 5 isolated microphthalmia 2 isolated microphthalmia 1 isolated microphthalmia 8 isolated microphthalmia 3 osteoporosis-pseudoglioma syndrome Pierson syndrome autosomal recessive pseudohypoaldosteronism type 1 right atrial isomerism microphthalmia with limb anomalies mal de Meleda leukoencephalopathy with vanishing white matter prune belly syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 20 Parkinson's disease 14 Norman-Roberts syndrome karyomegalic interstitial nephritis proteosome-associated autoinflammatory syndrome 4 proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome 5 infantile hypotonia with psychomotor retardation and characteristic facies-3 dystonia 31 dystonia 32 dystonia 33 interstitial lung disease 1 Ullrich congenital muscular dystrophy 1B Ullrich congenital muscular dystrophy 1C 3-hydroxyisobutryl-CoA hydrolase deficiency hypervalinemia and hyperleucine-isoleucinemia dystonia 35, childhood-onset dystonia 37, early-onset with striatal lesions orofaciodigital syndrome XIV orofaciodigital syndrome II orofaciodigital syndrome XIX orofaciodigital syndrome XVIII orofaciodigital syndrome XX dystonia 22, juvenile-onset dystonia 22, adult-onset hypotrichosis 15 WHIM syndrome 2 autosomal recessive Robinow syndrome 2 Fanconi anemia complementation group W Fanconi anemia complementation group S mosaic variegated aneuploidy syndrome 4 sitosterolemia 2 preaxial polydactyly I pancreatic agenesis 2 congenital disorder of deglycosylation 2 bent bone dysplasia syndrome 2 encephalopathy due to defective mitochondrial and peroxisomal fission 2 mitochondrial trifunctional protein deficiency 2 congenital amegakaryocytic thrombocytopenia 2 pancreatic agenesis 1 poor metabolism of thiopurines 1 congenital amegakaryocytic thrombocytopenia 1 sideroblastic anemia 5 ovarian dysgenesis 9 ovarian dysgenesis 10 combined or isolated pituitary growth hormone deficiency 7 combined or isolated pituitary hormone deficiency 1 combined pituitary hormone deficiency 2 combined pituitary hormone deficiency 3 nonphotosensitive trichothiodystrophy 8 nonphotosensitive trichothiodystrophy 9 familial restrictive cardiomyopathy 6 hereditary pyropoikilocytosis immunodeficiency 80 immunodeficiency 81 immunodeficiency 86 immunodeficiency 87 immunodeficiency 88 immunodeficiency 89 immunodeficiency 90 immunodeficiency 91 immunodeficiency 92 immunodeficiency 93 immunodeficiency 95 immunodeficiency 96 immunodeficiency 97 immunodeficiency 99 Perrault syndrome 7 severe combined immunodeficiency 105 immunodeficiency 106 immunodeficiency 108 immunodeficiency 109 immunodeficiency 112 immunodeficiency 114 immunodeficiency 115 immunodeficiency 116 immunodeficiency 117 immunodeficiency 119 immunodeficiency 120 immunodeficiency 122 immunodeficiency 123 severe combined immunodeficiency 124 immunodeficiency 125 immunodeficiency 127 immunodeficiency 128 immunodeficiency 129 immunodeficiency 130 immunodeficiency 133 Carpenter syndrome 1 Carpenter syndrome 2 hypertrophic cardiomyopathy 27 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 Seckel syndrome 2 autosomal recessive dyskeratosis congenita 1 autosomal recessive dyskeratosis congenita 2 autosomal recessive dyskeratosis congenita 3 autosomal recessive dyskeratosis congenita 4 autosomal recessive dyskeratosis congenita 5 autosomal recessive dyskeratosis congenita 6 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 1 autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type III autosomal recessive cutis laxa type I hereditary sensory and autonomic neuropathy type 5 hereditary sensory neuropathy type 4 hereditary sensory neuropathy type 2C hereditary sensory and autonomic neuropathy type 2B hereditary sensory and autonomic neuropathy type 6 hereditary sensory and autonomic neuropathy type 8 hereditary sensory and autonomic neuropathy type 2A spermatogenic failure 21 spermatogenic failure 18 spermatogenic failure 20 spermatogenic failure 6 spermatogenic failure 19 spermatogenic failure 15 spermatogenic failure 7 spermatogenic failure 17 spermatogenic failure 22 spermatogenic failure 14 spermatogenic failure 23 spermatogenic failure 13 spermatogenic failure 5 spermatogenic failure 16 autosomal recessive chronic granulomatous disease 2 autosomal recessive chronic granulomatous disease 1 autosomal recessive chronic granulomatous disease 4 autosomal recessive chronic granulomatous disease 3 Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 3 familial partial lipodystrophy type 5 familial partial lipodystrophy type 6 familial hyperinsulinemic hypoglycemia 4 familial hyperinsulinemic hypoglycemia 2 familial hyperinsulinemic hypoglycemia 1 progressive familial intrahepatic cholestasis 2 progressive familial intrahepatic cholestasis 3 progressive familial intrahepatic cholestasis 4 progressive familial intrahepatic cholestasis 5 progressive familial intrahepatic cholestasis 1 benign recurrent intrahepatic cholestasis 1 benign recurrent intrahepatic cholestasis 2 autosomal recessive Emery-Dreifuss muscular dystrophy 3 congenital disorder of glycosylation type IIa congenital disorder of glycosylation type IIb congenital disorder of glycosylation type IIc congenital disorder of glycosylation type IId congenital disorder of glycosylation type IIe congenital disorder of glycosylation type IIf congenital disorder of glycosylation type IIg congenital disorder of glycosylation type IIh congenital disorder of glycosylation type IIi congenital disorder of glycosylation type IIj congenital disorder of glycosylation type IIk congenital disorder of glycosylation type IIl congenital disorder of glycosylation type IIn congenital disorder of glycosylation type IIo congenital disorder of glycosylation type IIp congenital disorder of glycosylation type IIq primary autosomal recessive microcephaly multiple epiphyseal dysplasia 4 multiple epiphyseal dysplasia 7 craniolenticulosutural dysplasia mitochondrial DNA depletion syndrome 8b multiple mitochondrial dysfunctions syndrome 6 neonatal-onset type II citrullinemia stress-induced childhood-onset neurodegeneration with variable ataxia and seizures cataract 48 visual impairment and progressive phthisis bulbi autosomal recessive chronic granulomatous disease 5 restrictive dermopathy 1 developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy 95 developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy 105 developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy 110 progressive leukoencephalopathy with ovarian failure hypomyelinating leukodystrophy 23 hypomyelinating leukodystrophy 15 hypomyelinating leukodystrophy 18 hypomyelinating leukodystrophy 26 hypomyelinating leukodystrophy 17 hypomyelinating leukodystrophy 21 Hengel-Maroofian-Schols syndrome combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 57 mitochondrial DNA depletion syndrome 16 mitochondrial DNA depletion syndrome 16B mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 20 hereditary spastic paraplegia 70 hereditary spastic paraplegia 87 hereditary spastic paraplegia 89 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B mitochondrial complex V (ATP synthase) deficiency nuclear type 5 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 Yoon-Bellen neurodevelopmental syndrome Zaki syndrome diphthamide deficiency syndrome mitochondrial complex IV deficiency nuclear type 23 Parkinson's disease 25 classic dopamine transporter deficiency syndrome infantile parkinsonism-dystonia 2 mitochondrial complex IV deficiency nuclear type 1 mitochondrial complex IV deficiency nuclear type 3 mitochondrial complex IV deficiency nuclear type 4 mitochondrial complex IV deficiency nuclear type 7 mitochondrial complex IV deficiency nuclear type 8 mitochondrial complex IV deficiency nuclear type 10 mitochondrial complex IV deficiency nuclear type 11 mitochondrial complex IV deficiency nuclear type 12 mitochondrial complex IV deficiency nuclear type 14 mitochondrial complex IV deficiency nuclear type 15 mitochondrial complex IV deficiency nuclear type 16 mitochondrial complex IV deficiency nuclear type 17 mitochondrial complex IV deficiency nuclear type 18 mitochondrial complex IV deficiency nuclear type 19 mitochondrial complex IV deficiency nuclear type 20 mitochondrial complex IV deficiency nuclear type 21 mitochondrial complex IV deficiency nuclear type 22 inflammatory poikiloderma with hair abnormalities and acral keratoses polyhydramnios, megalencephaly, and symptomatic epilepsy PLACK syndrome foveal hypoplasia 2 Halperin-Birk syndrome mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency neurodevelopmental disorder with spastic paraplegia and microcephaly neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities congenital glutamine deficiency palmoplantar keratoderma and woolly hair Nagashima-type palmoplantar keratosis Fanconi-Bickel syndrome glucose-galactose malabsorption spermatogenic failure 66 spermatogenic failure 67 spermatogenic failure 68 spermatogenic failure 69 spermatogenic failure 70 spermatogenic failure 71 spermatogenic failure 72 spermatogenic failure 73 spermatogenic failure 74 spermatogenic failure 75 spermatogenic failure 76 spermatogenic failure 77 spermatogenic failure 78 spermatogenic failure 79 spermatogenic failure 80 spermatogenic failure 81 spermatogenic failure 82 spermatogenic failure 83 spermatogenic failure 84 spermatogenic failure 85 spermatogenic failure 86 spermatogenic failure 87 spermatogenic failure 88 spermatogenic failure 89 spermatogenic failure 90 spermatogenic failure 91 spermatogenic failure 92 spermatogenic failure 93 spermatogenic failure 94 spermatogenic failure 95 familial renal glucosuria otospondylomegaepiphyseal dysplasia, autosomal recessive SOST-related sclerosing bone dysplasia pycnodysostosis acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, Hunter-Thompson type acromesomelic dysplasia, Grebe type achondrogenesis type IA achondrogenesis type IB mucolipidosis III alpha/beta nonsyndromic congenital nail disorder 3 nonsyndromic congenital nail disorder 4 nonsyndromic congenital nail disorder 9 myofibrillar myopathy 1 myofibrillar myopathy 7 Compton-North congenital myopathy microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 2 mitochondrial DNA depletion syndrome 3 Alpers-Huttenlocher syndrome mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 6 mitochondrial DNA depletion syndrome 7 mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome 13 Sengers syndrome multiple mitochondrial dysfunctions syndrome 1 multiple mitochondrial dysfunctions syndrome 2 multiple mitochondrial dysfunctions syndrome 3 multiple mitochondrial dysfunctions syndrome 4 multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome 3 mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 2 otulipenia poor metabolism of thiopurines PHARC syndrome Marinesco-Sjogren syndrome congenital muscular dystrophy with cataracts and intellectual disability sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay lysosomal acid lipase deficiency Galloway-Mowat syndrome 3 Galloway-Mowat syndrome 4 erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis et progressiva 5 spastic ataxia 8 Meckel syndrome 13 orofaciodigital syndrome XVI Meier-Gorlin syndrome 8 Perrault syndrome 6 nephrotic syndrome type 14 nephrotic syndrome type 15 nephrotic syndrome type 16 multiple mitochondrial dysfunctions syndrome 5 developmental and epileptic encephalopathy 55 orofaciodigital syndrome XVII retinitis pigmentosa 81 short-rib thoracic dysplasia 18 with polydactyly short-rib thoracic dysplasia 19 with or without polydactyly hypomyelinating leukodystrophy 14 myofibrillar myopathy 8 fatal infantile hypertonic myofibrillar myopathy neurodevelopmental disorder with midbrain and hindbrain malformations megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts 2A multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly mitochondrial DNA depletion syndrome 12b mitochondrial DNA depletion syndrome 15 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 developmental and epileptic encephalopathy 39 retinitis pigmentosa 77 mitochondrial complex IV deficiency nuclear type 2 mitochondrial complex IV deficiency nuclear type 6 mitochondrial complex IV deficiency nuclear type 9 mitochondrial complex IV deficiency nuclear type 13 trimethylaminuria mitochondrial pyruvate carrier deficiency nephrotic syndrome type 2 nephrotic syndrome type 5 nephrotic syndrome type 13 nephrotic syndrome type 3 nephrotic syndrome type 6 nephrotic syndrome type 11 nephrotic syndrome type 10 nephrotic syndrome type 12 nephrotic syndrome type 7 nephrotic syndrome type 8 nephrotic syndrome type 1 nephrotic syndrome type 9 nephrotic syndrome type 17 nephrotic syndrome type 18 nephrotic syndrome type 19 orofacial cleft 7 orofacial cleft 14 familial adenomatous polyposis 2 familial adenomatous polyposis 3 familial adenomatous polyposis 4 developmental and epileptic encephalopathy 18 developmental and epileptic encephalopathy 15 developmental and epileptic encephalopathy 23 developmental and epileptic encephalopathy 38 developmental and epileptic encephalopathy 50 developmental and epileptic encephalopathy 44 developmental and epileptic encephalopathy 63 developmental and epileptic encephalopathy 40 developmental and epileptic encephalopathy 60 developmental and epileptic encephalopathy 51 developmental and epileptic encephalopathy 61 developmental and epileptic encephalopathy 37 developmental and epileptic encephalopathy 3 developmental and epileptic encephalopathy 49 developmental and epileptic encephalopathy 21 developmental and epileptic encephalopathy 48 developmental and epileptic encephalopathy 16 developmental and epileptic encephalopathy 29 developmental and epileptic encephalopathy 28 developmental and epileptic encephalopathy 25 developmental and epileptic encephalopathy 52 microcephaly, seizures, and developmental delay developmental and epileptic encephalopathy 35 developmental and epileptic encephalopathy 12 developmental and epileptic encephalopathy 34 developmental and epileptic encephalopathy 53 GM1 gangliosidosis type 3 ovarian dysgenesis 1 ovarian dysgenesis 3 ovarian dysgenesis 4 ovarian dysgenesis 5 ovarian dysgenesis 6 ovarian dysgenesis 7 Meier-Gorlin syndrome 1 Meier-Gorlin syndrome 2 Meier-Gorlin syndrome 3 Meier-Gorlin syndrome 4 Meier-Gorlin syndrome 5 Meier-Gorlin syndrome 7 hyperprolinemia type 1 hyperprolinemia type 2 congenital disorder of glycosylation Ia congenital disorder of glycosylation Iaa congenital disorder of glycosylation Ib congenital disorder of glycosylation Ic congenital disorder of glycosylation Id congenital disorder of glycosylation Ie congenital disorder of glycosylation If congenital disorder of glycosylation Ig congenital disorder of glycosylation Ih congenital disorder of glycosylation Ii congenital disorder of glycosylation Ij congenital disorder of glycosylation Ik congenital disorder of glycosylation Il congenital disorder of glycosylation Im congenital disorder of glycosylation In congenital disorder of glycosylation Ip congenital disorder of glycosylation Iq congenital disorder of glycosylation Ir congenital disorder of glycosylation It congenital disorder of glycosylation Iu congenital disorder of glycosylation Iw congenital disorder of glycosylation Ix Larsen-like syndrome B3GAT3 type spondyloepimetaphyseal dysplasia, Genevieve-type hyperekplexia 4 congenital myasthenic syndrome 22 Klippel-Feil syndrome 2 Klippel-Feil syndrome 4 hyper IgE recurrent infection syndrome 2 hyper IgE recurrent infection syndrome 3 hyper IgE recurrent infection syndrome 4 anterior segment dysgenesis 2 anterior segment dysgenesis 7 anterior segment dysgenesis 8 glucocorticoid deficiency 1 peroxisome biogenesis disorder 2B Heimler syndrome 1 Heimler syndrome 2 corticosterone methyloxidase deficiency 1 alopecia-mental retardation syndrome 1 alopecia-mental retardation syndrome 2 Fazio-Londe disease optic disc anomalies with retinal and/or macular dystrophy atrial standstill 2 fibrochondrogenesis 1 fibrochondrogenesis 2 mucolipidosis III gamma mosaic variegated aneuploidy syndrome 3 developmental and epileptic encephalopathy 82 infantile liver failure syndrome 1 GNE myopathy congenital myopathy 6 Kenny-Caffey syndrome type 1 brittle cornea syndrome 2 Ehlers-Danlos syndrome cardiac valvular type Ehlers-Danlos syndrome classic-like 1 Ehlers-Danlos syndrome classic-like 2 Ehlers-Danlos syndrome dermatosparaxis type Ehlers-Danlos syndrome kyphoscoliotic type 1 Ehlers-Danlos syndrome kyphoscoliotic type 2 Ehlers-Danlos syndrome musculocontractural type 1 Ehlers-Danlos syndrome musculocontractural type 2 Ehlers-Danlos syndrome spondylodysplastic type 1 keratosis pilaris atrophicans Fanconi renotubular syndrome 2 Fanconi renotubular syndrome 5 pyridoxine-dependent epilepsy early-onset vitamin B6-dependent epilepsy 1 beta-thalassemia major beta-thalassemia intermedia transient infantile liver failure Brown-Vialetto-Van Laere syndrome 1 Brown-Vialetto-Van Laere syndrome 2 Treacher Collins syndrome 2 Treacher Collins syndrome 3 autosomal recessive craniometaphyseal dysplasia growth hormone insensitivity syndrome with immune dysregulation 1 omodysplasia 1 primary ovarian insufficiency 8 primary ovarian insufficiency 9 primary ovarian insufficiency 10 primary ovarian insufficiency 12 primary ovarian insufficiency 13 primary ovarian insufficiency 14 primary ovarian insufficiency 15 vitamin D-dependent rickets type 2A vitamin D-dependent rickets type 1A vitamin D-dependent rickets type 1B cerebellofaciodental syndrome bilateral frontoparietal polymicrogyria bilateral parasagittal parieto-occipital polymicrogyria cytochrome P450 oxidoreductase deficiency hereditary angioedema type I retinal dystrophy with leukodystrophy alopecia-mental retardation syndrome 4 alopecia-mental retardation syndrome 3 AMED syndrome amelogenesis imperfecta type 1J arthrogryposis multiplex congenita amelogenesis imperfecta type 2A6 anauxetic dysplasia 2 anauxetic dysplasia 3 arthrogryposis multiplex congenita-1 arthrogryposis multiplex congenita-3 arthrogryposis multiplex congenita-4 arthrogryposis multiplex congenita-5 RNASET2-deficient cystic leukoencephalopathy intellectual developmental disorder with cardiac arrhythmia Bardet-Biedl syndrome 20 Bardet-Biedl syndrome 21 Bardet-Biedl syndrome 22 congenital fibrosis of the extraocular muscles 2 congenital fibrosis of the extraocular muscles 5 Tukel syndrome retinal cone dystrophy 3B glutatione synthetase deficiency with 5-oxoprolinuria frontonasal dysplasia 1 frontonasal dysplasia 2 frontonasal dysplasia 3 nephrogenic diabetes insipidus type 2 osteosclerotic metaphyseal dysplasia craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 mandibuloacral dysplasia type B lipodystrophy BH4-deficient hyperphenylalaninemia C BH4-deficient hyperphenylalaninemia D 3-methylglutaconic aciduria type 7b agammaglobulinemia 2 agammaglobulinemia 1 agammaglobulinemia 3 agammaglobulinemia 6 agammaglobulinemia 7 agammaglobulinemia 9 agammaglobulinemia 8B common variable immunodeficiency 1 common variable immunodeficiency 2 common variable immunodeficiency 3 common variable immunodeficiency 4 common variable immunodeficiency 5 common variable immunodeficiency 6 common variable immunodeficiency 7 common variable immunodeficiency 8 dilated cardiomyopathy 2C dilated cardiomyopathy 2D dilated cardiomyopathy 2E dilated cardiomyopathy 2F dilated cardiomyopathy 2G HMG-CoA synthase 2 deficiency short stature, hearing loss, retinitis pigmentosa, and distinctive facies acromesomelic dysplasia 3 acromesomelic dysplasia 4 peroxisome biogenesis disorder 1B peroxisome biogenesis disorder 3B pulmonary venoocclusive disease 2 Smith-McCort dysplasia 1 Smith-McCort dysplasia 2 Sandestig-Stefanova syndrome peroxisome biogenesis disorder 14B cerebellar atrophy, visual impairment, and psychomotor retardation contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oxoglutarate dehydrogenase deficiency familial hyperinsulinemic hypoglycemia 8 glycogen storage disease Ib glycogen storage disease Ic Wiedemann-Rautenstrauch syndrome Nestor-Guillermo progeria syndrome Becker disease congenital myopathy 2B congenital myopathy 5 congenital myopathy 9A congenital myopathy 9B congenital myopathy 10B congenital myopathy 14 congenital myopathy 17 congenital myopathy 18 congenital myopathy 19 congenital myopathy 20 congenital myopathy 21 congenital myopathy 22A congenital myopathy 22B spastic quadriplegic cerebral palsy 3 Paget's disease of bone 5 nemaline myopathy 5B TANGO2-related metabolic encephalopathy and arrythmias Caroli syndrome Harel-Yoon syndrome neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome childhood-onset dystonia with optic atrophy and basal ganglia abnormalities microcephaly, short stature, and limb abnormalities Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 8B Peroxisome biogenesis disorder 9B Peroxisome biogenesis disorder 11B Peroxisome biogenesis disorder 10B dimethylglycine dehydrogenase deficiency cone-rod dystrophy 21 cone-rod dystrophy 22 Fraser syndrome agenesis of the corpus callosum with peripheral neuropathy progressive pseudorheumatoid arthropathy of childhood Schwartz-Jampel syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome severe combined immunodeficiency with sensitivity to ionizing radiation severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive severe combined immunodeficiency 104 epidermolysis bullosa simplex with muscular dystrophy sitosterolemia 1 split hand-foot malformation 1 with sensorineural hearing loss split hand-foot malformation 6 Silverman-Handmaker type dyssegmental dysplasia torsion dystonia 2 torsion dystonia 17 dopa-responsive dystonia dystonia 16 dystonia 27 enhanced S-cone syndrome Wolcott-Rallison syndrome Fuhrmann syndrome giant axonal neuropathy 1 hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 23 with or without anosmia BH4-deficient hyperphenylalaninemia A Nasu-Hakola disease RIDDLE syndrome spinocerebellar ataxia with axonal neuropathy 1 spondylocarpotarsal synostosis syndrome thiamine-responsive megaloblastic anemia syndrome congenital amegakaryocytic thrombocytopenia neurogenic-type arthrogryposis multiplex congenita-2 branched-chain keto acid dehydrogenase kinase deficiency camptodactyly-arthropathy-coxa vara-pericarditis syndrome cortical dysplasia-focal epilepsy syndrome cortisone reductase deficiency 1 cystathioninuria brachyolmia-amelogenesis imperfecta syndrome Donnai-Barrow syndrome 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria type 3 Leber congenital amaurosis 9 achromatopsia 2 achromatopsia 3 achromatopsia 7 Leber congenital amaurosis 2 autosomal recessive Alport syndrome amelogenesis imperfecta type 1C amelogenesis imperfecta type 2A1 amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1H amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G Leber congenital amaurosis 1 Leber congenital amaurosis 8 Leber congenital amaurosis 12 asphyxiating thoracic dystrophy 1 asphyxiating thoracic dystrophy 2 asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy 4 asphyxiating thoracic dystrophy 5 short-rib thoracic dysplasia 7 with or without polydactyly short-rib thoracic dysplasia 10 with or without polydactyly short-rib thoracic dysplasia 6 with or without polydactyly short-rib thoracic dysplasia 13 with or without polydactyly short-rib thoracic dysplasia 8 with or without polydactyly short-rib thoracic dysplasia 11 with or without polydactyly short-rib thoracic dysplasia 14 with polydactyly short-rib thoracic dysplasia 9 with or without polydactyly autoimmune lymphoproliferative syndrome type 2B Leber congenital amaurosis 16 autoimmune lymphoproliferative syndrome type 3 Bardet-Biedl syndrome 7 Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4K Leber congenital amaurosis 14 Leber congenital amaurosis 15 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease recessive intermediate B Leber congenital amaurosis 5 Leber congenital amaurosis 17 cataract 18 cataract 13 with adult i phenotype cataract 46 juvenile-onset cataract 38 cataract 36 cataract 11 multiple types cataract 16 multiple types cataract 35 cataract 45 cataract 19 multiple types cataract 33 cataract 9 multiple types cataract 44 cataract 22 multiple types cataract 17 multiple types autosomal recessive limb-girdle muscular dystrophy Leber congenital amaurosis 6 Leber congenital amaurosis 13 Leber congenital amaurosis 4 osteogenesis imperfecta type 8 osteogenesis imperfecta type 7 osteogenesis imperfecta type 17 osteogenesis imperfecta type 13 osteogenesis imperfecta type 10 osteogenesis imperfecta type 15 osteogenesis imperfecta type 12 osteogenesis imperfecta type 9 osteogenesis imperfecta type 11 retinitis pigmentosa 59 retinitis pigmentosa 20 retinitis pigmentosa 19 retinitis pigmentosa 35 retinitis pigmentosa 12 retinitis pigmentosa 75 retinitis pigmentosa 71 retinitis pigmentosa 28 retinitis pigmentosa 38 retinitis pigmentosa 26 retinitis pigmentosa 56 retinitis pigmentosa 4 retinitis pigmentosa 68 retinitis pigmentosa 40 retinitis pigmentosa 41 retinitis pigmentosa 29 retinitis pigmentosa 62 retinitis pigmentosa 14 retinitis pigmentosa 7 retinitis pigmentosa 25 retinitis pigmentosa 73 retinitis pigmentosa 1 retinitis pigmentosa 72 retinitis pigmentosa 50 retinitis pigmentosa 37 retinitis pigmentosa 74 retinitis pigmentosa 45 retinitis pigmentosa 57 retinitis pigmentosa 69 retinitis pigmentosa with or without situs inversus late-adult onset retinitis pigmentosa autosomal recessive pericentral pigmentary retinopathy dilated cardiomyopathy 2B dilated cardiomyopathy 1X dilated cardiomyopathy 2A Wolfram syndrome 1 Wolfram syndrome 2 megaconial type congenital muscular dystrophy rigid spine muscular dystrophy 1 congenital muscular dystrophy 1B muscular dystrophy-dystroglycanopathy type B5 congenital merosin-deficient muscular dystrophy 1A muscular dystrophy-dystroglycanopathy type B6 congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myasthenic syndrome 8 congenital myasthenic syndrome 15 congenital myasthenic syndrome 12 congenital myasthenic syndrome 20 congenital myasthenic syndrome 1B congenital myasthenic syndrome 3C congenital myasthenic syndrome 3B congenital myasthenic syndrome 5 congenital myasthenic syndrome 10 congenital myasthenic syndrome 14 congenital myasthenic syndrome 9 congenital myasthenic syndrome 6 congenital myasthenic syndrome 21 congenital myasthenic syndrome 19 congenital myasthenic syndrome 17 congenital myasthenic syndrome 11 congenital myasthenic syndrome 13 congenital myasthenic syndrome 4B congenital myasthenic syndrome 4A congenital myasthenic syndrome 4C congenital myasthenic syndrome 2C congenital myasthenic syndrome 16 hypotrichosis 6 hypotrichosis 7 hypotrichosis 8 hypotrichosis 9 hypotrichosis 10 congenital hypotrichosis with juvenile macular dystrophy Oguchi disease-1 Oguchi disease-2 congenital stationary night blindness 1G neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 9 neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation 2b neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 6 hereditary spastic paraplegia 11 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 18 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 32 hereditary spastic paraplegia 35 hereditary spastic paraplegia 39 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 47 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 50 hereditary spastic paraplegia 51 hereditary spastic paraplegia 52 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 7 hereditary spastic paraplegia 72A hereditary spastic paraplegia 74 hereditary spastic paraplegia 75 hereditary spastic paraplegia 76 hereditary spastic paraplegia 77 hereditary spastic paraplegia 9B Usher syndrome type 1C Usher syndrome type 1D Usher syndrome type 1F Usher syndrome type 1E Usher syndrome type 1G Usher syndrome type 1J Usher syndrome type 1K Usher syndrome type 2A Usher syndrome type 2C Usher syndrome type 2D Usher syndrome type 3A Usher syndrome type 3B autosomal recessive polycystic kidney disease congenital stationary night blindness 1F congenital stationary night blindness 1B congenital stationary night blindness 1H congenital stationary night blindness 1C congenital stationary night blindness 1D congenital stationary night blindness 1E inflammatory bowel disease 28 inflammatory bowel disease 25 hereditary spherocytosis type 1 hereditary spherocytosis type 3 hereditary spherocytosis type 5 familial hemophagocytic lymphohistiocytosis 1 familial hemophagocytic lymphohistiocytosis 2 familial hemophagocytic lymphohistiocytosis 3 familial hemophagocytic lymphohistiocytosis 4 nemaline myopathy 1 nemaline myopathy 3 nemaline myopathy 2 nemaline myopathy 9 nemaline myopathy 8 nemaline myopathy 10 nemaline myopathy 11 nemaline myopathy 7 nemaline myopathy 5A autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis 3 autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis 2 autosomal recessive osteopetrosis 4 autosomal recessive osteopetrosis 6 autosomal recessive osteopetrosis 7 Gaucher's disease type III glycogen storage disease IXc gray platelet syndrome platelet-type bleeding disorder 10 platelet-type bleeding disorder 19 platelet-type bleeding disorder 18 platelet-type bleeding disorder 11 hyperphosphatemic familial tumoral calcinosis autosomal recessive distal hereditary motor neuronopathy 1 autosomal recessive distal hereditary motor neuronopathy 2 congenital nonspherocytic hemolytic anemia 2 Fanconi anemia complementation group V Fanconi anemia complementation group T Fanconi anemia complementation group L Fanconi anemia complementation group D2 Fanconi anemia complementation group E Fanconi anemia complementation group U Fanconi anemia complementation group C Fanconi anemia complementation group D1 Fanconi anemia complementation group I Fanconi anemia complementation group P Fanconi anemia complementation group Q Fanconi anemia complementation group A Fanconi anemia complementation group O focal segmental glomerulosclerosis 6 focal segmental glomerulosclerosis 9 autosomal recessive isolated ectopia lentis 2 spermatogenic failure 9 Dyggve-Melchior-Clausen disease sepiapterin reductase deficiency distal myopathy with anterior tibial onset erythrokeratodermia variabilis et progressiva 1 autosomal recessive distal hereditary motor neuronopathy autosomal recessive centronuclear myopathy congenital muscular dystrophy-dystroglycanopathy type A glutaric acidemia I McKusick-Kaufman syndrome gamma-glutamyl transpeptidase deficiency pentosuria postaxial acrofacial dysostosis fumarase deficiency infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly combined malonic and methylmalonic acidemia Ruijs-Aalfs syndrome Boucher-Neuhauser syndrome geroderma osteodysplasticum autosomal recessive hyaline body myopathy isolated sulfite oxidase deficiency Oliver-McFarlane syndrome CODAS syndrome sensory ataxic neuropathy, dysarthria, and ophthalmoparesis mitochondrial trifunctional protein deficiency histiocytosis-lymphadenopathy plus syndrome Pitt-Hopkins-like syndrome 2 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome congenital leptin deficiency myopathy with extrapyramidal signs Jackson-Weiss syndrome transient bullous dermolysis of the newborn D-2-hydroxyglutaric aciduria 1 arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis 2 hypotrichosis-lymphedema-telangiectasia syndrome familial hepatic adenoma isolated hyperchlorhidrosis fetal akinesia deformation sequence syndrome 3 fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome 2 fetal akinesia deformation sequence syndrome 4 mucopolysaccharidosis Ih/s mucopolysaccharidosis Ih mucopolysaccharidosis IVA mucopolysaccharidosis type IVB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIA congenital dyserythropoietic anemia type Ib congenital dyserythropoietic anemia type Ia congenital dyserythropoietic anemia type II mucopolysaccharidosis type IIID Jalili syndrome trichohepatoenteric syndrome familial apolipoprotein C-II deficiency familial GPIHBP1 deficiency familial lipase maturation factor 1 deficiency optic atrophy 6 optic atrophy 11 optic atrophy 7 optic atrophy 9 progressive myoclonus epilepsy 4 progressive myoclonus epilepsy 10 progressive myoclonus epilepsy 3 progressive myoclonus epilepsy 1B progressive myoclonus epilepsy 6 progressive myoclonus epilepsy 9 progressive myoclonus epilepsy 8 progressive myoclonus epilepsy 1A 2-aminoadipic 2-oxoadipic aciduria GRACILE syndrome Kaufman oculocerebrofacial syndrome galactose epimerase deficiency classic galactosemia combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency 21 combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency 13 combined oxidative phosphorylation deficiency 25 combined oxidative phosphorylation deficiency 16 combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency 30 combined oxidative phosphorylation deficiency 9 combined oxidative phosphorylation deficiency 5 combined oxidative phosphorylation deficiency 1 combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency 14 combined oxidative phosphorylation deficiency 20 combined oxidative phosphorylation deficiency 8 combined oxidative phosphorylation deficiency 10 combined oxidative phosphorylation deficiency 11 combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency 2 combined oxidative phosphorylation deficiency 18 combined oxidative phosphorylation deficiency 24 combined oxidative phosphorylation deficiency 3 combined oxidative phosphorylation deficiency 7 combined oxidative phosphorylation deficiency 31 combined oxidative phosphorylation deficiency 27 combined oxidative phosphorylation deficiency 26 combined oxidative phosphorylation deficiency 15 combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency 12 combined oxidative phosphorylation deficiency 4 combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency 17 combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency 22 combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency 23 combined oxidative phosphorylation deficiency 29 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 autosomal recessive progressive external ophthalmoplegia 1 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 spinal muscular atrophy with progressive myoclonic epilepsy prolidase deficiency Alkuraya-Kucinskas syndrome Charcot-Marie-Tooth disease type 2A2B Charcot-Marie-Tooth disease type 2EE familial isolated trichomegaly autosomal recessive woolly hair 3 Behr syndrome hereditary arterial and articular multiple calcification syndrome carboxypeptidase N deficiency carnitine-acylcarnitine translocase deficiency Martsolf syndrome Gordon Holmes syndrome Greenberg dysplasia COACH syndrome Cohen syndrome congenital heart defects, hamartomas of tongue, and polysyndactyly plasminogen deficiency type I distal arthrogryposis type 5D autosomal recessive Whistling face syndrome combined D-2- and L-2-hydroxyglutaric aciduria corneal dystrophy-perceptive deafness syndrome Temtamy syndrome ventriculomegaly - cystic kidney disease D-glyceric aciduria DOORS syndrome high myopia-sensorineural deafness syndrome dihydropyrimidinase deficiency congenital sucrase-isomaltase deficiency Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome congenital lactase deficiency ectopia lentis with ectopia of pupil ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ectodermal dysplasia 13 ectodermal dysplasia 15 ectodermal dysplasia 11B ectodermal dysplasia 9 ectodermal dysplasia 5 ectodermal dysplasia 4 ectodermal dysplasia 6 ectodermal dysplasia 7 ectodermal dysplasia 8 ectodermal dysplasia 14 ectodermal dysplasia 10B proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome enterokinase deficiency Kohlschutter-Tonz syndrome hyaline fibromatosis syndrome intellectual developmental disorder with short stature and behavioral abnormalities high molecular weight kininogen deficiency familial benign fleck retina hereditary folate malabsorption glutamate formiminotransferase deficiency essential fructosuria congenital nonspherocytic hemolytic anemia 7 familial adult myoclonic epilepsy 5 proprotein convertase 1/3 deficiency Van den Ende-Gupta syndrome familial hypertryptophanemia amelogenesis imperfecta type 3C geleophysic dysplasia 1 Eiken syndrome 46,XY sex reversal 8 46,XY sex reversal 7 46,XY sex reversal 5 Frank-Ter Haar syndrome autosomal recessive congenital nystagmus syndromic microphthalmia 9 congenital nongoitrous hypothyroidism 7 osteogenesis imperfecta type 18 osteogenesis imperfecta type 20 primary ciliary dyskinesia 44 primary ciliary dyskinesia 38 primary ciliary dyskinesia 40 primary ciliary dyskinesia 39 primary ciliary dyskinesia 42 primary ciliary dyskinesia 45 primary ciliary dyskinesia 41 autosomal recessive congenital bilateral absence of vas deferens photosensitive trichothiodystrophy 2 nonphotosensitive trichothiodystrophy 7 photosensitive trichothiodystrophy 3 nonphotosensitive trichothiodystrophy 6 photosensitive trichothiodystrophy 1 autosomal recessive thrombophilia due to protein C deficiency autosomal recessive thrombophilia due to protein S deficiency spermatogenic failure 34 spermatogenic failure 41 spermatogenic failure 30 spermatogenic failure 35 spermatogenic failure 33 spermatogenic failure 28 spermatogenic failure 43 spermatogenic failure 40 spermatogenic failure 38 spermatogenic failure 25 spermatogenic failure 31 spermatogenic failure 42 spermatogenic failure 26 spermatogenic failure 39 spermatogenic failure 37 spermatogenic failure 27 spermatogenic failure 24 spermatogenic failure 29 immunodeficiency 38 immunodeficiency 16 immunodeficiency 22 immunodeficiency 24 immunodeficiency 37 immunodeficiency 42 immunodeficiency 20 immunodeficiency 25 immunodeficiency 48 immunodeficiency 31B immunodeficiency 46 immunodeficiency 29 immunodeficiency 40 immunodeficiency 57 immunodeficiency 23 immunodeficiency 27A immunodeficiency 11A immunodeficiency 15B immunodeficiency 26 immunodeficiency 54 immunodeficiency 41 immunodeficiency 10 immunodeficiency 18 immunodeficiency 19 immunodeficiency 17 immunodeficiency 59 immunodeficiency 44 immunodeficiency 9 immunodeficiency 7 immunodeficiency 65 immunodeficiency 64 immunodeficiency 43 immunodeficiency 56 immunodeficiency 52 immunodeficiency 58 immunodeficiency 32B immunodeficiency 12 immunodeficiency 35 immunodeficiency 30 immunodeficiency 62 immunodeficiency 53 immunodeficiency 55 immunodeficiency 45 immunodeficiency 28 immunodeficiency 51 immunodeficiency 63 immunodeficiency 66 immunodeficiency 61 immunodeficiency 71 immunodeficiency 69 immunodeficiency 72 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia nuclear type mitochondrial complex I deficiency 6 nuclear type mitochondrial complex I deficiency 25 nuclear type mitochondrial complex I deficiency 5 nuclear type mitochondrial complex I deficiency 22 nuclear type mitochondrial complex I deficiency 18 nuclear type mitochondrial complex I deficiency 31 nuclear type mitochondrial complex I deficiency 20 nuclear type mitochondrial complex I deficiency 9 nuclear type mitochondrial complex I deficiency 1 nuclear type mitochondrial complex I deficiency 10 nuclear type mitochondrial complex I deficiency 13 nuclear type mitochondrial complex I deficiency 15 nuclear type mitochondrial complex I deficiency 17 nuclear type mitochondrial complex I deficiency 24 nuclear type mitochondrial complex I deficiency 32 nuclear type mitochondrial complex I deficiency 8 nuclear type mitochondrial complex I deficiency 4 nuclear type mitochondrial complex I deficiency 2 nuclear type mitochondrial complex I deficiency 29 nuclear type mitochondrial complex I deficiency 19 nuclear type mitochondrial complex I deficiency 26 nuclear type mitochondrial complex I deficiency 23 nuclear type mitochondrial complex I deficiency 21 nuclear type mitochondrial complex I deficiency 11 nuclear type mitochondrial complex I deficiency 27 nuclear type mitochondrial complex I deficiency 34 nuclear type mitochondrial complex I deficiency 7 nuclear type mitochondrial complex I deficiency 3 nuclear type mitochondrial complex I deficiency 14 nuclear type mitochondrial complex I deficiency 28 nuclear type mitochondrial complex I deficiency 16 nuclear type mitochondrial complex I deficiency 33 Sotos syndrome 3 myofibrillar myopathy 10 spermatogenic failure 44 combined oxidative phosphorylation deficiency 49 combined oxidative phosphorylation deficiency 50 combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency 41 severe congenital neutropenia 7 severe congenital neutropenia 5 severe congenital neutropenia 3 severe congenital neutropenia 6 severe congenital neutropenia 4 combined oxidative phosphorylation deficiency 51 primary coenzyme Q10 deficiency 9 nuclear type mitochondrial complex I deficiency 35 retinitis pigmentosa 84 retinitis pigmentosa 85 retinitis pigmentosa 88 retinitis pigmentosa 90 CHIME syndrome hypomyelinating leukodystrophy 20 spermatogenic failure 45 spermatogenic failure 46 wrinkly skin syndrome combined deficiency of vitamin K-dependent clotting factors 1 combined deficiency of vitamin K-dependent clotting factors 2 spermatogenic failure 47 spermatogenic failure 48 urocanase deficiency Schinzel type phocomelia mismatch repair cancer syndrome thyroid dyshormonogenesis 5 thyroid dyshormonogenesis 1 thyroid dyshormonogenesis 2A thyroid dyshormonogenesis 3 thyroid dyshormonogenesis 4 thyroid dyshormonogenesis 6 tetraamelia syndrome 1 tetraamelia syndrome 2 Filippi syndrome spondylometaepiphyseal dysplasia, short limb-hand type spondyloepimetaphyseal dysplasia with joint laxity type 1 spondyloepimetaphyseal dysplasia with joint laxity type 3 osteogenesis imperfecta type 21 developmental and epileptic encephalopathy 68 developmental and epileptic encephalopathy 71 developmental and epileptic encephalopathy 75 developmental and epileptic encephalopathy 76 multiple congenital anomalies-hypotonia-seizures syndrome 4 developmental and epileptic encephalopathy 80 developmental and epileptic encephalopathy 81 developmental and epileptic encephalopathy 83 developmental and epileptic encephalopathy 84 developmental and epileptic encephalopathy 86 developmental and epileptic encephalopathy 88 developmental and epileptic encephalopathy 89 chondrodysplasia with joint dislocations gPAPP type BH4-deficient hyperphenylalaninemia B lissencephaly 5 lissencephaly 7 with cerebellar hypoplasia lissencephaly 8 lissencephaly 4 lissencephaly 6 alopecia, neurologic defects, and endocrinopathy syndrome glutaric acidemia type 3 17-beta hydroxysteroid dehydrogenase 3 deficiency GAPO syndrome Gaucher's disease type IIIC Ghosal hematodiaphyseal syndrome congenital nonspherocytic hemolytic anemia 6 combined cellular and humoral immune defects with granulomas hepatic venoocclusive disease with immunodeficiency homocystinuria-megaloblastic anemia cblE type homocystinuria-megaloblastic anemia cblG type hydroxykynureninuria N-acetylglutamate synthase deficiency Leydig cell hypoplasia Leydig cell hypoplasia type I Leydig cell hypoplasia type II Woodhouse-Sakati syndrome nephrotic syndrome type 23 nephrotic syndrome type 21 nephrotic syndrome type 22 primary ovarian insufficiency 18 spermatogenic failure 52 spermatogenic failure 49 spermatogenic failure 50 spermatogenic failure 51 immunodeficiency 79 primary ovarian insufficiency 19 spermatogenic failure 53 spondyloepiphyseal dysplasia Kondo-Fu type spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type spondyloepiphyseal dysplasia tarda with intellectual disability autosomal recessive spondyloepiphyseal dysplasia tarda spondylometaphyseal dysplasia Sedaghatian type axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia with cone-rod dystrophy spondylometaphyseal dysplasia with corneal dystrophy spondylometaphyseal dysplasia Megarbane-Dagher-Melike type Mahvash Disease sarcosinemia brain small vessel disease 3 methemoglobinemia and ambiguous genitalia Schindler disease alacrima, achalasia, and impaired intellectual development syndrome pontocerebellar hypoplasia type 1D pontocerebellar hypoplasia type 11 pontocerebellar hypoplasia type 14 pontocerebellar hypoplasia type 15 pontocerebellar hypoplasia type 12 pontocerebellar hypoplasia type 2F pontocerebellar hypoplasia type 1E pontocerebellar hypoplasia type 1F pontocerebellar hypoplasia type 13 pontocerebellar hypoplasia type 16 pontocerebellar hypoplasia type 1C spermatogenic failure 54 spermatogenic failure 56 spermatogenic failure 55 spermatogenic failure 57 craniotubular dysplasia Ikegawa type hereditary spastic paraplegia 86 hereditary spastic paraplegia 82 hereditary spastic paraplegia 79B hereditary spastic paraplegia 85 hereditary spastic paraplegia 83 hereditary spastic paraplegia 84 hereditary spastic paraplegia 78 hereditary spastic paraplegia 81 spermatogenic failure 61 spermatogenic failure 62 spermatogenic failure 58 spermatogenic failure 64 spermatogenic failure 65 spermatogenic failure 60 spermatogenic failure 63 spermatogenic failure 59 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 spondylocostal dysostosis 6 spondylocostal dysostosis 3 spondylocostal dysostosis 2 spondylocostal dysostosis 4 spondylocostal dysostosis 1 muscular dystrophy-dystroglycanopathy type B15 muscular dystrophy-dystroglycanopathy type B14 muscular dystrophy-dystroglycanopathy type B3 muscular dystrophy-dystroglycanopathy type B4 muscular dystrophy-dystroglycanopathy type B2 muscular dystrophy-dystroglycanopathy type C12 muscular dystrophy-dystroglycanopathy type C8 thalassemia cystinosis sickle cell anemia glycogen storage disease VII common variable immunodeficiency nephronophthisis Ellis-Van Creveld syndrome epidermodysplasia verruciformis abetalipoproteinemia familial lipoprotein lipase deficiency Sjogren-Larsson syndrome hypertelorism, microtia, facial clefting syndrome multiple intestinal atresia diastrophic dysplasia Johanson-Blizzard syndrome thrombocytopenia-absent radius syndrome beta-ketothiolase deficiency autosomal recessive type IV Ehlers-Danlos syndrome cartilage-hair hypoplasia brittle cornea syndrome 1 Dubowitz syndrome cystic fibrosis Laurence-Moon syndrome Bardet-Biedl syndrome Nezelof syndrome factor XIII deficiency factor VII deficiency factor V deficiency Bernard-Soulier syndrome factor X deficiency factor XII deficiency prothrombin deficiency congenital afibrinogenemia gangliosidosis rhizomelic chondrodysplasia punctata Bloom syndrome pseudoxanthoma elasticum glycogen storage disease V glycogen storage disease III glycogen storage disease Ia glycogen storage disease IV glycogen storage disease II glycogen storage disease VI Chediak-Higashi syndrome Cockayne syndrome Papillon-Lefevre disease congenital myopathy 1A Lafora disease Canavan disease Hermansky-Pudlak syndrome antithrombin III deficiency pantothenate kinase-associated neurodegeneration Roberts syndrome spondyloepimetaphyseal dysplasia, Sponastrime type Werner syndrome purine nucleoside phosphorylase deficiency leukocyte adhesion deficiency Nijmegen breakage syndrome biotinidase deficiency Zellweger syndrome glycine encephalopathy carbamoyl phosphate synthetase I deficiency disease Laron syndrome