| Disease | Genetic inheritance |
| Infantile Polycystic Kidney Disease | |
| Sphingolipidoses (except Fabry's) | |
| Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) | |
| Hemochromatosis | |
| Fabry's disease | |
| Familial adenomatous polyposis (FAP) | |
| Achondroplasia | |
| Multiple endocrine neoplasias (MEN) | |
| Adult Polycystic Kidney Disease | |
| Sickle cell anemia | |
| Bruton's agammaglobulinemia | |
| Duchenne's & Becker's muscular dystrophy | |
| Neurofibromatosis 1 (von Recklinghausen) | |
| Glycogen storage diseases | |
| Albinism | |
| Hereditary spherocytosis | |