| 3 beta-Hydroxysteroid dehydrogenase deficiency |
Deafness, autosomal recessive 77 |
Glucose-6-phosphate dehydrogenase (G6PD) deficiency |
Inclusion Body Myopathy 2 |
Ornithine aminotransferase deficiency |
| 3-Phosphoglycerate Dehydrogenase Deficiency |
Deficiency of acetyl-CoA acetyltransferase |
Galactosylceramide beta-galactosidase deficiency |
Infantile Sialic acid storage disease; Salla disease |
Ornithine carbamoyltransferase deficiency |
| Abetalipoproteinaemia |
Deficiency of alpha-mannosidase |
Gaucher disease |
Isovaleryl-CoA dehydrogenase deficiency |
Partial adenosine deaminase deficiency |
| Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Diastrophic dysplasia |
Deficiency of galactokinase |
Gitelman Syndrome |
Joubert Syndrome 2 / Meckel Syndrome 2 |
Pendred syndrome |
| Achromatopsia |
Deficiency of guanidinoacetate methyltransferase |
Glutaric acidemia type 1 |
Joubert syndrome 28 |
Peroxisomal acyl-CoA oxidase deficiency |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
Deficiency of hydroxymethylglutaryl-CoA lyase |
Glutaric acidemia type 2A |
Joubert syndrome 5 |
Phenylketonuria |
| Acyl-CoA dehydrogenase family, member 9 deficiency |
Deficiency of steroid 11-beta-monooxygenase |
Glutaric acidemia type 2C |
Joubert syndrome 7 |
Phosphoribosylpyrophosphate synthetase superactivity |
| Adrenoleukodystrophy |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
Glycine encephalopathy (AMT-related) |
Junctional epidermolysis bullosa (LAMA3 related) |
Polyglandular autoimmune syndrome, type 1 |
| Adult polyglucosan body neuropathy |
Dihydrolipoamide dehydrogenase deficiency |
Glycine encephalopathy (GLDC-related) |
Junctional epidermolysis bullosa (LAMB3 related) |
Polymicrogyria |
| Aicardi Goutieres syndrome 5 |
Duchenne muscular dystrophy |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
Junctional epidermolysis bullosa (LAMC2 related) |
Pontocerebellar hypoplasia type 1A |
| Alpha thalassemia-X-linked intellectual disability syndrome |
Dyskeratosis congenita, autosomal recessive, 5 |
Glycogen storage disease type 1B |
Juvenile retinoschisis |
Pontocerebellar hypoplasia type 2D |
| Alport Syndrome (COL4A3-related) |
Dystrophic epidermolysis bullosa |
Glycogen storage disease type 2 |
Lamellar Ichthyosis, Type 1 |
Pontocerebellar hypoplasia type 6 |
| Alport Syndrome (COL4A4-related) |
Ehlers-Danlos syndrome dermatosparaxis type |
Glycogen storage disease type 3 |
Laminin alpha 2-related dystrophy |
Primary carnitine deficiency |
| Alport Syndrome, X-linked (COL4A5-related) |
Ellis-van Creveld syndrome (EVC-related) |
Glycogen storage disease type 4 |
Laryngo-onycho-cutaneous syndrome |
Primary Ciliary Dyskinesia (DNAH11-related) |
| Alstrom syndrome |
Ellis-van Creveld syndrome (EVC2-related) |
Glycogen storage disease type 5 |
Leber congenital amaurosis 10 |
Primary Ciliary Dyskinesia (DNAH5-related) |
| Anauxetic dysplasia; Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosis |
Emery-Dreifuss muscular dystrophy, X-linked |
Glycogen storage disease type 7 |
Leber congenital amaurosis 13 |
Primary Ciliary Dyskinesia (DNAI1-related) |
| Andermann Syndrome |
Enhanced s-cone syndrome |
GRACILE syndrome/ BCS1L-related disorders |
Leber congenital amaurosis 2 |
Primary Ciliary Dyskinesia (DNAI2-related) |
| Arginase deficiency |
Ethylmalonic encephalopathy |
Hemochromatosis type 2A |
Leber congenital amaurosis 5 |
Primary hyperoxaluria type I |
| Argininosuccinate lyase deficiency |
Fabry disease |
Hemochromatosis type 3 |
Leber congenital amaurosis 8 |
Primary hyperoxaluria type II |
| Aromatase deficiency |
Familial dysautonomia |
Hereditary acrodermatitis enteropathica |
Leigh syndrome, French Canadian type |
Primary hyperoxaluria type III |
| Arthrogryposis, mental retardation, and seizures |
Familial hypercholesterolemia (LDLR related) |
Hereditary factor IX deficiency disease |
Lethal congenital contracture syndrome |
Progressive familial intrahepatic cholestasis 2 |
| Arts syndrome |
Familial hypercholesterolemia (LDLRAP1 related) |
Hereditary fructosuria |
Leukoencephalopathy with vanishing white matter |
Propionic acidemia (PCCA related) |
| Asparagine synthetase deficiency |
Familial Hyperinsulinism, ABCC8-Related |
Hereditary insensitivity to pain with anhidrosis |
Limb-girdle muscular dystrophy type 2A |
Propionic acidemia (PCCB related) |
| Aspartylglucosaminuria |
Familial isolated deficiency of vitamin E |
Hereditary spastic paraplegia 15 |
Limb-girdle muscular dystrophy type 2B |
Pyknodysostosis |
| Ataxia-telangiectasia syndrome |
Fanconi anemia type A |
Hermansky-Pudlak syndrome type 1 |
Limb-girdle muscular dystrophy type 2C |
Pyruvate carboxylase deficiency |
| Autosomal recessive osteopetrosis 1 |
Fanconi anemia type C |
Hermansky-Pudlak syndrome type 3 |
Limb-girdle muscular dystrophy type 2D |
Pyruvate dehydrogenase E1-alpha deficiency |
| Autosomal recessive polycystic kidney disease |
Fanconi anemia type G |
Holocarboxylase synthetase deficiency |
Limb-girdle muscular dystrophy type 2E |
Pyruvate dehydrogenase E1-beta deficiency |
| Bardet-Biedl syndrome 1 |
Fetal akinesia deformation sequence |
Homocystinuria (CBS related) |
Limb-girdle muscular dystrophy type 2F |
Renal tubular acidosis with progressive nerve deafness |
| Bardet-Biedl syndrome 10 |
Finnish congenital nephrotic syndrome |
Homocystinuria due to MTHFR deficiency |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
Retinitis pigmentosa 20 |
| Bardet-Biedl syndrome 12 |
Fragile X syndrome |
Homocystinuria, cobalamin E type |
Lysinuric protein intolerance |
Retinitis pigmentosa 25 |
| Bardet-Biedl syndrome 13 |
Fukuyama congenital muscular dystrophy |
Hydrolethalus syndrome |
Lysosomal acid lipase deficiency |
Retinitis pigmentosa 26 |
| Bardet-Biedl syndrome 14 |
Fumarase deficiency |
Hyperlipoproteinemia, type I |
Maple syrup urine disease type 1A |
Retinitis pigmentosa 28 |
| Bardet-Biedl syndrome 2 |
|
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Maple syrup urine disease type 1B |
Retinitis pigmentosa 59 |
| Bare lymphocyte syndrome 2 |
|
Hypohidrotic X-linked ectodermal dysplasia |
Maple syrup urine disease type 2 |
Retinitis pigmentosa 73 |
| Bartter disease type 4a |
|
Hypophosphatasia |
Meckel-Gruber syndrome |
Retinitis pigmentosa 76 |
| BH4-deficient hyperphenylalaninemia A |
|
|
Meckel syndrome type 1 |
Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related) |
| Bifunctional peroxisomal enzyme deficiency |
|
|
Meckel syndrome type 4 |
Rhizomelic chondrodysplasia punctata type 3 |
| Bloom syndrome |
|
|
Meckel syndrome, type 5 |
Roberts-SC phocomelia syndrome |
| Canavan Disease |
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Sandhoff disease |
| Carnitine palmitoyltransferase I deficiency |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts 1 |
Schimke immuno-osseous dysplasia |
| Carnitine palmitoyltransferase II deficiency |
|
|
Menkes kinky-hair syndrome |
Segawa syndrome |
| Carpenter syndrome 1 |
|
|
Metachromatic leukodystrophy (ARSA related) |
Senior-Loken syndrome 6 |
| Cerebrotendinous xanthomatosis |
|
|
Metachromatic leukodystrophy due to |
Severe combined immunodeficiency (RAG2-related) |
| Charcot-Marie-Tooth disease type 4D |
|
|
saposin-b deficiency |
Severe combined immunodeficiency due to ADA deficiency |
| Charcot-Marie-Tooth disease, X-linked |
|
|
Methylmalonic acidemia (MMAA related) |
Severe combined immunodeficiency due to DCLRE1C deficiency |
| Charcot-Marie-Tooth Neuropathy X |
|
|
Methylmalonic acidemia (MMAB related) |
Severe combined immunodeficiency, X-linked |
| Charlevoix-Saguenay spastic ataxia |
|
|
Methylmalonic Aciduria and Homocystinuria, Type cblC |
Severe congenital neutropenia 3 |
| Choreoacanthocytosis |
|
|
Methylmalonic Aciduria and Homocystinuria, Type cblD |
Severe congenital neutropenia 5, autosomal recessive |
| Choroideremia |
|
|
Microcephaly, postnatal progressive, with seizures and brain atrophy |
Severe X-linked myotubular myopathy |
| Chronic granulomatous disease (CYBA related) |
|
|
Microphthalmia /clinical anophthalmia (VSX2-related) |
Sjögren-Larsson syndrome |
| Chronic granulomatous disease, X-linked |
|
|
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related) |
Smith-Lemli-Opitz syndrome |
| Citrin deficiency |
|
|
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF6-related) |
Spastic paraplegia 49, autosomal recessive |
| Citrullinemia type I |
|
|
Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
Spinal muscular atrophy |
| Cockayne syndrome type A |
|
|
MPV17-related mitochondrial DNA maintenance defect |
Spondylocostal dysostosis |
| Cockayne syndrome type B |
|
|
Mucolipidosis type II |
Steel syndrome |
| Cohen syndrome |
|
|
Mucolipidosis type III gamma |
Stuve-Wiedemann Syndrome |
| Combined malonic and methylmalonic aciduria |
|
|
Mucolipidosis type IV |
Tay-Sachs disease |
| Combined oxidative phosphorylation deficiency 1 |
|
|
Mucopolysaccharidosis type I (Hurler syndrome) |
Tooth agenesis, selective, 4; Odonto-onycho-dermal dysplasia; Schopf-Schulz-Passarge syndrome |
| Combined oxidative phosphorylation deficiency 3 |
|
|
Mucopolysaccharidosis type II (Hurler syndrome) |
Tyrosinemia type I |
| Combined Pituitary Hormone Deficiency-2 |
|
|
Mucopolysaccharidosis type IIIA |
Tyrosinemia type II |
| Combined Pituitary Hormone Deficiency-3 |
|
|
Mucopolysaccharidosis type IIIB (Sanfilippo B) |
Usher syndrome type 1B |
| Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
|
|
Mucopolysaccharidosis type IIIC |
Usher syndrome type 1C |
| Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
|
|
Mucopolysaccharidosis type IIID |
Usher syndrome type 1D |
| Congenital Adrenal Hyperplasia |
|
|
Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis |
Usher syndrome type 1F |
| Congenital amegakaryocytic thrombocytopenia |
|
|
Mucopolysaccharidosis type IX |
Usher syndrome type 2A |
| Congenital bilateral aplasia of vas deferens from CFTR mutation |
|
|
Mucopolysaccharidosis type VI |
Usher syndrome type 3A |
| Congenital disorder of glycosylation type 1A |
|
|
Multiple sulfatase deficiency |
Very long-chain acyl-CoA dehydrogenase deficiency |
| Congenital disorder of glycosylation type 1B |
|
|
Muscular dystrophy-dystroglycanopathy, FKTN-related |
Walker-Warburg congenital muscular dystrophy |
| Congenital disorder of glycosylation type 1C |
|
|
Myopathy, lactic acidosis, and sideroblastic anemia 1 |
Werdnig-Hoffmann disease |
| Congenital hyperammonemia, type I |
|
|
N-acetylglutamate Synthase Deficiency |
Wilson disease |
| Congenital Hyperinsulinism |
|
|
Nemaline myopathy 2 |
Xeroderma pigmentosum group A |
| Congenital muscular dystrophy-dystroglycanopathy |
|
|
Nephrogenic diabetes insipidus |
Xeroderma pigmentosum, group C |
| Congenital myasthenic syndrome |
|
|
Nephrotic syndrome, idiopathic, steroid-resistant |
Zellweger spectrum disorder (PEX1-related) |
| Congenital myasthenic syndrome (CHRNE) |
|
|
Neuronal ceroid lipofuscinosis 1 |
Zellweger spectrum disorder (PEX10-related) |
| Corneal dystrophy-perceptive deafness syndrome |
|
|
Neuronal ceroid lipofuscinosis 2 |
Zellweger spectrum disorder (PEX12-related) |
| Corneal endothelial dystrophy |
|
|
Neuronal ceroid lipofuscinosis 3 |
Zellweger spectrum disorder (PEX2-related) |
| Corticosterone Methyloxidase Deficiency |
|
|
Neuronal ceroid lipofuscinosis 5 |
Zellweger spectrum disorder (PEX6-related) |
| Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) |
|
|
Neuronal ceroid lipofuscinosis 6 |
|
| Creatine transporter deficiency |
|
|
Neuronal ceroid lipofuscinosis 7 |
|
| Cystic fibrosis |
|
|
Neuronal ceroid lipofuscinosis 8 |
|
| Cystinosis |
|
|
Niemann-Pick disease type C1 |
|
|
|
|
Niemann-Pick disease type C2 |
|
|
|
|
Niemann-Pick Disease, Types A/B |
|
|
|
|
Nijmegen breakage syndrome |
|
|
|
|
Nonsyndromic hearing loss and deafness |
|
