Clinical manifestations similar to all five described cases of<unk>  severe neurodevelopment delay, microphthalmia and/or coloboma, low set and malformed ears, bilateral cleft lip and palate, and constipation. Out of the five cases, two cases presented with imperforated anus/rectal stenosis. Both cases were described in females and, although not definitive, may describe clinical manifestations that differ between sexes.
Kapur–Toriello syndrome
Ellis–Van Creveld syndrome
Wilson–Turner syndrome
Landau–Kleffner syndrome
Letterer–Siwe disease
Malouf syndrome
Smith–Lemli–Opitz syndrome
Smith–Magenis syndrome