Similar to シンプソン・ゴラビ・ベーメル症候群

Usher syndrome

Ehlers–Danlos syndrome

Cardiofaciocutaneous syndrome

Sotos syndrome

Osteopetrosis

Down syndrome

Chédiak–Higashi syndrome

Dravet syndrome

Patau syndrome

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Anencephaly

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

CHARGE syndrome

FG syndrome

MELAS syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

H syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria