Similar to ミュラー管遺残症候群

Usher syndrome

Ehlers–Danlos syndrome

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Sertoli cell-only syndrome

Sotos syndrome

Osteopetrosis

Down syndrome

Chédiak–Higashi syndrome

Dravet syndrome

Patau syndrome

Mitochondrial DNA depletion 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