Similar to フォン・ヒッペル・リンドウ病

Von Willebrand disease

Prader–Willi syndrome

Peutz–Jeghers syndrome

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Marfan syndrome

Mitochondrial DNA depletion syndrome

Mitochondrial disease

Persistent Müllerian duct syndrome

Anencephaly

Maple syrup urine disease

Liddle's syndrome

Lipoid congenital adrenal hyperplasia

Leber's hereditary optic neuropathy

Lesch–Nyhan syndrome

Rett syndrome

Monilethrix

Waardenburg syndrome

Genetic disorder

ATR-X syndrome

Cri du chat syndrome

Alpha-1 antitrypsin deficiency

Alkaptonuria

Albinism

Hereditary nonpolyposis colorectal cancer