| List of genetic disorders |
| | 22q11.2 deletion syndrome |
| | Charcot-Marie-Tooth disease |
| | Duchenne muscular dystrophy |
| | 5-ALA dehydratase-deficient porphyria |
| | 5-aminolaevulinic dehydratase deficiency porphyria |
| | 21-hydroxylase deficiency |
| | ALA dehydratase deficiency |
| | ALA dehydratase porphyria |
| | APC resistance, Leiden type |
| | Acid beta-glucosidase deficiency |
| | Acrocephalosyndactyly (Apert) |
| | Acute cerebral Gaucher's disease |
| | Adelaide-type craniosynostosis |
| | Adenomatous Polyposis Coli |
| | Adenomatous Polyposis of the Colon |
| | Alpha-galactosidase A deficiency |
| | Amino levulinic acid dehydratase deficiency |
| | Aminoacylase 2 deficiency |
| | Anemia, hereditary sideroblastic |
| | Anemia, sex-linked hypochromic sideroblastic |
| | Anemia, splenic, familial |
| | Angiokeratoma Corporis Diffusum |
| | Arthro-ophthalmopathy, hereditary progressive |
| | Arthrochalasis multiplex congenita |
| | Aspartoacylase deficiency |
| | Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome |
| | Autosomal Recessive Sensorineural Hearing Impairment and Goiter |
| | Autosomal dominant opitz G/BBB syndrome |
| | Autosomal recessive nonsyndromic hearing loss |
| | acrocephalosyndactyly, type V |
| | acute intermittent porphyria |
| | adenylosuccinate lyase deficiency |
| | alpha-1 antitrypsin deficiency |
| | alpha-1 proteinase inhibitor |
| | alpha-1 related emphysema |
| | amyotrophic lateral sclerosis |
| | androgen insensitivity syndrome |
| | autosomal dominant juvenile ALS |
| | autosomal recessive form of juvenile ALS type 3 |
| | B variant of the Hexosaminidase GM2 gangliosidosis |
| | Beare-Stevenson cutis gyrata syndrome |
| | Benign paroxysmal peritonitis |
| | Bilateral Acoustic Neurofibromatosis |
| | Bloch-Sulzberger syndrome |
| | Bonnevie-Ullrich syndrome |
| | Broad Thumb-Hallux syndrome |
| | Bulbospinal muscular atrophy, X-linked |
| | Carboxylase Deficiency, Multiple, Late-Onset |
| | Caylor cardiofacial syndrome |
| | Ceramide trihexosidase deficiency |
| | Cerebelloretinal Angiomatosis, familial |
| | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
| | Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy |
| | Cerebroatrophic Hyperammonemia |
| | Cerebroside Lipidosis syndrome |
| | Charcot-Marie-Tooth disease |
| | Chondrodystrophy syndrome |
| | Chondrodystrophy with sensorineural deafness |
| | Chondrogenesis imperfecta |
| | Choreoathetosis self-mutilation hyperuricemia syndrome |
| | Classical Ehlers-Danlos syndrome |
| | Classical Phenylketonuria |
| | Cloverleaf skull with thanatophoric dwarfism |
| | Colon Cancer, familial Nonpolyposis |
| | Complete hypoxanthine-guanine phosphoribosyltransferase deficiency |
| | Congenital adrenal hyperplasia |
| | Congenital erythropoietic porphyria |
| | Congenital hypomyelination |
| | Congenital hypothyroidism |
| | Congenital methemoglobinemia |
| | Congenital osteosclerosis |
| | Congenital sideroblastic anaemia |
| | Connective tissue disease |
| | Conotruncal anomaly face syndrome |
| | Coproporphyria, hereditary |
| | Coproporphyrinogen oxidase deficiency |
| | Craniofacial dysarthrosis |
| | Creutzfeldt-Jakob disease |
| | Crohn's disease, fibrostenosing |
| | Crouzon syndrome with acanthosis nigricans |
| | Crouzonodermoskeletal syndrome |
| | Curschmann-Batten-Steinert syndrome |
| | collagenopathy, types II and XI |
| | congenital bilateral absence of vas deferens |
| | cutis gyrata syndrome of Beare-Stevenson |
| | D-glycerate dehydrogenase deficiency |
| | DAT - Dementia Alzheimer's type |
| | Dappled metaphysis syndrome |
| | Deafness-retinitis pigmentosa syndrome |
| | Deficiency disease, Phenylalanine Hydroxylase |
| | Degenerative nerve diseases |
| | Delta-aminolevulinate dehydratase deficiency porphyria |
| | Dermatosparactic type of Ehlers-Danlos syndrome |
| | Developmental Disabilities |
| | Diffuse Globoid Body Sclerosis |
| | Dihydrotestosterone receptor deficiency |
| | Duchenne/Becker muscular dystrophy |
| | Dwarfism-retinal atrophy-deafness syndrome |
| | demyelinogenic leukodystrophy |
| | distal spinal muscular atrophy, type V |
| | dysmyelinogenic leukodystrophy |
| | dystrophia retinae pigmentosa-dysostosis syndrome |
| | Early-Onset familial alzheimer disease (EOFAD) |
| | Erythrohepatic protoporphyria |
| | Erythroid 5-aminolevulinate synthetase deficiency |
| | Erythropoietic uroporphyria |
| | erythropoietic protoporphyria |
| | FGFR3-associated coronal synostosis |
| | Facial injuries and disorders |
| | Female pseudo-Turner syndrome |
| | Ferrochelatase deficiency |
| | Fibrinoid degeneration of astrocytes |
| | Fibrocystic disease of the pancreas |
| | factor V Leiden thrombophilia |
| | familial Alzheimer disease (FAD) |
| | familial acoustic neuroma |
| | familial adenomatous polyposis |
| | familial amyotrophic lateral sclerosis |
| | familial fat-induced hypertriglyceridemia |
| | familial nonpolyposis colon cancer |
| | familial paroxysmal polyserositis |
| | familial pressure sensitive neuropathy |
| | familial primary pulmonary hypertension (FPPH) |
| | familial vascular leukoencephalopathy |
| | GM2 gangliosidosis, type 1 |
| | Galactokinase deficiency disease |
| | Galactose-1-phosphate uridyl-transferase deficiency disease |
| | Galactosylceramidase deficiency disease |
| | Galactosylceramide lipidosis |
| | Giant cell hepatitis, neonatal |
| | Glucocerebrosidase deficiency |
| | Glucosyl cerebroside lipidosis |
| | Glucosylceramidase deficiency |
| | Glucosylceramide beta-glucosidase deficiency |
| | Glucosylceramide lipidosis |
| | Gronblad-Strandberg syndrome |
| | galactosylcerebrosidase deficiency |
| | galactosylsphingosine lipidosis |
| | globoid cell leukodystrophy (GCL, GLD) |
| | globoid cell leukoencephalopathy |
| | HFE-associated hemochromatosis |
| | HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency |
| | Head and brain malformations |
| | Hearing disorders and deafness |
| | Hearing problems in children |
| | Heme synthetase deficiency |
| | Hepatolenticular degeneration syndrome |
| | Hereditary Inclusion Body Myopathy |
| | Hereditary Multiple Exostoses |
| | Hereditary Polyposis Coli |
| | Hereditary arthro-ophthalmopathy |
| | Hereditary coproporphyria |
| | Hereditary dystopic lipidosis |
| | Hereditary hemochromatosis (HHC) |
| | Hereditary iron-loading anemia |
| | Hereditary motor and sensory neuropathy |
| | Hereditary motor neuronopathy |
| | Hereditary motor neuronopathy, type V |
| | Hereditary nonpolyposis colorectal cancer |
| | Hereditary periodic fever syndrome |
| | Hereditary pulmonary emphysema |
| | Hereditary resistance to activated protein C |
| | Hereditary sensory and autonomic neuropathy type III |
| | Hereditary spastic paraplegia |
| | Hereditary spinal sclerosis |
| | Heterozygous otospondylomegaepiphyseal dysplasia |
| | Hexosaminidase A deficiency |
| | Hexosaminidase alpha-subunit deficiency (variant B) |
| | Homogentisic acid oxidase deficiency |
| | Homozygous porphyria cutanea tarda |
| | Hutchinson-Gilford progeria syndrome |
| | Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
| | Hyperchylomicronemia, familial |
| | Hyperlipoproteinemia type I |
| | hepatoerythropoietic porphyria |
| | hyperglycinemia with ketoacidosis and leukopenia |
| | hypoxanthine phosphoribosyltransferse (HPRT) deficiency |
| | Idiopathic neonatal hemochromatosis |
| | Idiopathic pulmonary hypertension |
| | Infantile Gaucher disease |
| | Infantile cerebral Gaucher's disease |
| | Inherited human transmissible spongiform encephalopathies |
| | Intermittent acute porphyria syndrome |
| | Intestinal polyposis-cutaneous pigmentation syndrome |
| | idiopathic hemochromatosis |
| | infantile-onset ascending hereditary spastic paralysis |
| | inherited tendency to pressure palsies |
| | Juvenile gout, choreoathetosis, mental retardation syndrome |
| | juvenile amyotrophic lateral sclerosis |
| | juvenile hyperuricemia syndrome |
| | Kennedy spinal and bulbar muscular atrophy |
| | Langer-Saldino achondrogenesis |
| | Late-onset Alzheimer disease |
| | Late-onset familial Alzheimer disease (AD2) |
| | Leukodystrophy, spongiform |
| | Lipidosis, ganglioside, infantile |
| | Lipoid histiocytosis (kerasin type) |
| | Lysyl-hydroxylase deficiency |
| | late-onset Krabbe disease (LOKD) |
| | leukodystrophy with Rosenthal fibers |
| | lipoprotein lipase deficiency, familial |
| | Malignant neoplasm of breast |
| | Malignant tumor of urinary bladder |
| | Mediterranean fever, familial |
| | Mental retardation with osteocartilaginous abnormalities |
| | Metatropic dwarfism, type II |
| | Metatropic dysplasia type II |
| | Methemoglobinemia, beta-globin type |
| | Motor neuron disease, amyotrophic lateral sclerosis |
| | Multiple carboxylase deficiency, late-onset |
| | Multiple hamartoma syndrome |
| | Multiple neurofibromatosis |
| | Muscular dystrophy, Duchenne and Becker type |
| | malignant tumor of breast |
| | Nance-Sweeney chondrodysplasia |
| | Neurodegeneration with brain iron accumulation type 1 |
| | Neurofibromatosis type II |
| | neuronopathy, distal hereditary motor, type V |
| | neuronopathy, distal hereditary motor, with pyramidal features |
| | Non-neuronopathic Gaucher disease |
| | Non-phenylketonuric hyperphenylalaninemia |
| | Nonketotic hyperglycinemia |
| | Norrbottnian Gaucher disease |
| | Oto-spondylo-megaepiphyseal dysplasia |
| | otospondylomegaepiphyseal dysplasia |
| | PXE - pseudoxanthoma elasticum |
| | Patau Syndrome (Trisomy 13) |
| | Periorificial lentiginosis syndrome |
| | Peripheral nerve disorders |
| | Peripheral neurofibromatosis |
| | Peroneal muscular atrophy |
| | Phenylalanine hydroxylase deficiency disease |
| | Pierre Robin syndrome with fetal chondrodysplasia |
| | Polyostotic fibrous dysplasia |
| | Porphobilinogen synthase deficiency |
| | Prader-Labhart-Willi syndrome |
| | pantothenate kinase-associated neurodegeneration |
| | peroxisomal alanine:glyoxylate aminotransferase deficiency |
| | polyposis, hamartomatous intestinal |
| | polyposis, intestinal, II |
| | polyps-and-spots syndrome |
| | presenile and senile dementia |
| | primary hyperuricemia syndrome |
| | primary pulmonary hypertension |
| | primary senile degenerative dementia |
| | procollagen type EDS VII, mutant |
| | progressive chorea, chronic hereditary (Huntington) |
| | progressive muscular atrophy |
| | progressively deforming osteogenesis imperfecta with normal sclerae |
| | propionyl-CoA carboxylase deficiency |
| | protoporphyrinogen oxidase deficiency |
| | proximal myotonic dystrophy |
| | proximal myotonic myopathy |
| | pseudo-Ullrich-Turner syndrome |
| | pulmonary arterial hypertension |
| | Recklinghausen disease, nerve |
| | Retinitis pigmentosa-deafness syndrome |
| | Rubinstein-Taybi syndrome |
| | Schwannoma, acoustic, bilateral |
| | Skin pigmentation disorders |
| | South-African genetic porphyria |
| | Speech and communication disorders |
| | Steinert myotonic dystrophy syndrome |
| | Swedish genetic porphyria |
| | Swiss cheese cartilage dysplasia |
| | sarcoma family syndrome of Li and Fraumeni |
| | sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome |
| | severe achondroplasia with developmental delay and acanthosis nigricans |
| | skeleton-skin-brain syndrome |
| | spastic paralysis, infantile onset ascending |
| | sphingolipidosis, Tay-Sachs |
| | spinal muscular atrophy, distal type V |
| | spinal muscular atrophy, distal, with upper limb predominance |
| | spinal-bulbar muscular atrophy |
| | spondyloepimetaphyseal dysplasia, Strudwick type |
| | spondyloepiphyseal dysplasia |
| | spondyloepiphyseal dysplasia congenita |
| | spondylometaepiphyseal dysplasia congenita, Strudwick type |
| | spondylometaphyseal dysplasia (SMD) |
| | spondylometaphyseal dysplasia, Strudwick type |
| | spongy degeneration of central nervous system |
| | spongy degeneration of the brain |
| | spongy degeneration of white matter in infancy |
| | sporadic primary pulmonary hypertension |
| | subacute neuronopathic Gaucher disease |
| | TD - thanatophoric dwarfism |
| | TD with straight femurs and cloverleaf skull |
| | TFM - testicular feminization syndrome |
| | Telangiectasia, cerebello-oculocutaneous |
| | Testicular feminization syndrome |
| | Thrombophilia due to deficiency of cofactor for activated protein C, |
| | Total hypoxanthine-guanine phosphoribosyl transferase deficiency |
| | Transmissible spongiform encephalopathies |
| | Treacher Collins syndrome |
| | Troisier-Hanot-Chauffard syndrome |
| | Turner syndrome in female with X chromosome |
| | Turner's phenotype, karyotype normal |
| | tetrahydrobiopterin deficiency |
| | thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness |
| | UDP glucose 4-epimerase deficiency disease |
| | UDP glucose hexose-1-phosphate uridylyltransferase deficiency |
| | UDP-galactose-4-epimerase deficiency disease |
| | UTP hexose-1-phosphate uridylyltransferase deficiency |
| | Undifferentiated deafness |
| | Uroporphyrinogen decarboxylase deficiency |
| | Uroporphyrinogen synthase deficiency |
| | Van Bogaert-Bertrand syndrome |
| | Velocardiofacial syndrome |
| | Vision impairment and blindness |
| | Von Bogaert-Bertrand disease |
| | Von Recklenhausen-Applebaum disease |
| | von Hippel-Lindau disease |
| | von Recklinghausen disease |
| | Weissenbacher-Zweymuller syndrome |
| | X-linked mental retardation and macroorchidism |
| | X-linked primary hyperuricemia |
| | X-linked severe combined immunodeficiency |
| | X-linked sideroblastic anemia |
| | X-linked spinal-bulbar muscle atrophy |
| | X-linked uric aciduria enzyme defect |
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