TOPICS: Hypertrophic cardiomyopathy, Huntington disease, acute intermittent porphyria, von-Hippel Lindau disease, familial adenomatous polyposis, hereditary spherocytosis, achondroplasia, Li-Fraumeni syndrome, familial hypercholesterolemia, von Willebrand disease, tuberous sclerosis, hereditary hemorrhagic telangiectasia, Marfan syndrome, Neurofibromatosis type I, Neurofibromatosis type II, multiple endocrine neoplasia (MEN), osteogenesis imperfecta, myotonic muscular dystrophy
