Table.
List of phenotypes by inheritance pattern
| Autosomal Dominant (n=25) |
| Adrenocortical hyperplasia |
| Arrhythmogenic right ventricular dysplasia/cardiomyopathy |
| Bone marrow failure, telomere-related, 1 |
| Breast/ovarian cancer predisposition |
| Brugada syndrome 1 |
| Carcinoid tumors/Cowden disease 3 |
| Cerebral cavernous malformations |
| Colon cancer predisposition |
| Corneal dystrophy, hereditary polymorphous posterior |
| Diabetes mellitus, noninsulin-dependent |
| Enhanced S-cone syndrome |
| Familial hypercholesterolemia |
| Hyperglycinuria |
| Hyperlipoprotenemia, type III |
| Long QT syndrome 5 |
| Lynch syndrome |
| Nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
| Obesity |
| Paraganglioma 5 |
| Parkinson disease 8 |
| Retinitis pigmentosa 17 |
| Thyroid carcinoma, familial medullary |
| Timothy syndrome |
| Vitelliform macular dystrophy, adult onset |
| Von Willebrand disease, type 2N |
| Autosomal Recessive (n=93) |
| Alpha thalassemia |
| Abetalipoproteinemia |
| Acyl CoA dehydrogenase deficiency |
| Albinism, oculocutaneous, type IB |
| Amegakaryocytic thrombocytopenia |
| Bartter syndrome type 3 |
| Beta-ureidopropionase deficiency |
| Bloom syndrome |
| Bronchiectasis with or without elevated sweat chloride 2 |
| Canavan disease |
| Candidiasis, familial, 4 |
| Carnitine palmitoyltransferase 2 deficiency |
| Charcot-Marie-Tooth disease, type 1A |
| Cockayne syndrome A |
| Combined hyperlipidemia, familial |
| Congenital adrenal hyperplasia |
| Congenital myasthenic syndrome |
| Cryptorchidism |
| Cystic Fibrosis |
| Cystinuria |
| Deafness, autosomal recessive 1A |
| Dihydrolipoamide dehydrogenase deficiency |
| Dihydropyrimidine dehydrogenase deficiency |
| Dyskeratosis congenita, autosomal recessive, 3 |
| Early-onset myopathy, areflexia, respiratory distress, and dysphagia |
| Ehlers-Danlos syndrome, type II |
| Epidermolysis bullosa dystrophica |
| Factor XI deficiency (PTA) |
| Familial dysautonomia |
| Familial hyperinsulinism |
| Familial Mediterranean Fever |
| Fanconi anemia, complementation group C |
| Follicle-stimulating hormone deficiency |
| Fructose intolerance |
| Fucosyltransferase 6 deficiency |
| Galactosemia |
| Gaucher disease, type 1 |
| Glutathione synthetase deficiency |
| Glycogen storage disease Ia |
| Grey platelet syndrome |
| Haemophagocytic lymphohistiocytosis, familial |
| Hemochromatosis |
| Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency |
| Hermansky-Pudlak syndrome 1 |
| Hermasky-Pudlak syndrome 3 |
| Homocystinuria |
| Hyper IgD syndrome |
| Hyperoxaluria, primary, type 3 |
| Hyperprolinemia, type I |
| Hypertrophic osteoarthropathy, primary |
| Hypocholinesterasaemia |
| Ichthyosis vulgaris |
| Ichthyosis, congenital, autosomal recessive 1 |
| Immunodeficiency, centromeric instability & facial anomalies syndrome |
| Joubert syndrome |
| Leber congenital amaurosis 2 |
| Leigh Syndrome |
| Leukoencephalopathy, brain & spine involvement, lactate elevation |
| Mandibuloacral dysplasia |
| Maple syrup urine disease |
| Megalencephalic leukoencephalopathy with subcortical cysts |
| Megaloblastic anaemia, thiamine responsive |
| Mitochondrial DNA depletion syndrome 1 |
| Mucolipidosis IV |
| Muscular dystrophy, limb girdle 2L |
| Myoadenylate deaminase deficiency, myopathy due to |
| Nemaline myopathy |
| Neuronal ceroid lipofuscinosis, infantile |
| Niemann-Pick disease, type A |
| Phosphoglycerate dehydrogenase deficiency |
| Prekallikrein deficiency |
| Primary ciliary dyskinesia |
| Propionic acidaemia |
| Protoporphyria, erythropoietic |
| Refsum disease |
| Retinitis pigmentosa 1 |
| Retinitis pigmentosa 28 |
| Retinitis pigmentosa 59 |
| Retinitis pigmentosa 62 |
| Smith-Lemli-Opitz syndrome |
| Spastic paraplegia |
| Spinal muscular atrophy 37 |
| Spondylocostal dysostosis |
| Stargardt disease 1 |
| Tay-Sachs disease |
| Thrombotic thrombocytopenic purpura, familial |
| Thyroid dyshormonogenesis 3 |
| Usher syndrome, type 1F |
| Usher syndrome, type 3A |
| Vici syndrome |
| Walker-Warburg syndrome |
| Xeroderma pigmentosum, group C |
| X-linked (n=4) |
| Alport syndrome |
| Fragile X syndrome |
| Premature ovarian failure 2B |
| Premature ovarian failure 4 |