| 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 | |
