Similar to ATR-X症候群

Ehlers–Danlos syndrome

FG syndrome

Joubert syndrome

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Smith–Magenis 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

Cri du chat syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Alkaptonuria