Similar to スミス・マゲニス症候群

ATR-X syndrome

FG syndrome

Usher syndrome

Ehlers–Danlos syndrome

Joubert syndrome

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Sertoli cell-only syndrome

Sotos syndrome

Osteopetrosis

Down syndrome

Chédiak–Higashi syndrome

Dravet syndrome

Trisomy X

Noonan syndrome

Patau syndrome

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Anencephaly

RASopathy

Genetic disorder

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Alkaptonuria