Similar to チェディアック・東症候群

Ehlers–Danlos syndrome

Usher syndrome

Trisomy 18

Down syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Werner syndrome

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Sotos syndrome

Osteopetrosis

Dravet syndrome

Noonan syndrome

Patau syndrome

Huntington's disease

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Anencephaly

Neuromyotonia

Rabbit syndrome

Guillain–Barré syndrome

Klippel–Feil syndrome

B virus