Similar to チェディアック・東症候群

Von Hippel–Lindau disease

Prader–Willi syndrome

Peutz–Jeghers syndrome

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Marfan syndrome

Mitochondrial disease

Maple syrup urine disease

RASopathy

Liddle's syndrome

Lipoid congenital adrenal hyperplasia

Leber's hereditary optic neuropathy

Lesch–Nyhan syndrome

Rett syndrome

Monilethrix

Waardenburg syndrome

Eisenmenger syndrome

Blue diaper syndrome

Neuroleptic malignant syndrome

Adams–Stokes syndrome

Alien hand syndrome

Hepatic veno-occlusive disease

Chilaiditi syndrome

Sjögren's disease

Sturge–Weber syndrome

Tetra-amelia syndrome

Tolosa–Hunt syndrome