Similar to 兎の口症候群

Simpson–Golabi–Behmel syndrome

Sotos syndrome

Osteopetrosis

Down syndrome

Chédiak–Higashi syndrome

Tetra-amelia syndrome

SIDS

Patau syndrome

Bernard–Soulier syndrome

Poland syndrome

Potter sequence

Mitochondrial DNA depletion syndrome

Persistent Müllerian duct syndrome

Anencephaly

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alport syndrome

Isovaleric acidemia

Werner syndrome

Trisomy 18

Frontotemporal dementia and parkinsonism linked to chromosome 17

Neuropsychiatric systemic lupus erythematosus

Akureyri disease

Aphantasia

Angelman syndrome