Similar to レーベル遺伝性視神経症

Chédiak–Higashi syndrome

Channelopathy

Dravet syndrome

Treacher Collins syndrome

Achondroplasia

Noonan syndrome

Cystic fibrosis

Progeria

Patau syndrome

Fanconi anemia

Von Willebrand disease

Von Hippel–Lindau disease

Prader–Willi syndrome

Peutz–Jeghers syndrome

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Anencephaly

Maple syrup urine disease

Liddle's syndrome

Lipoid congenital adrenal hyperplasia

Lesch–Nyhan syndrome

Rett syndrome

Monilethrix

Waardenburg syndrome

Pseudoxanthoma elasticum