Similar to ヌーナン症候群

Sotos syndrome

RASopathy

Ehlers–Danlos syndrome

Osteopetrosis

Down syndrome

Patau syndrome

Neuromyotonia

Glucose-6-phosphate dehydrogenase deficiency

ATR-X syndrome

Isovaleric acidemia

FG syndrome

Familial Mediterranean fever

Cronkhite–Canada syndrome

Joubert syndrome

Noninvasive prenatal testing

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Smith–Magenis syndrome

Fragile X syndrome

Sertoli cell-only syndrome

Chédiak–Higashi syndrome

Dravet syndrome

Trisomy X

Huntington's disease

Mitochondrial DNA depletion syndrome

Mitochondrial disease

Persistent Müllerian duct syndrome

Anencephaly