<unk>  is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.
Smith–Lemli–Opitz syndrome
DiGeorge syndrome
Li–Fraumeni syndrome
Smith–Magenis syndrome
Wilson–Turner syndrome
Simpson–Golabi–Behmel syndrome
Landau–Kleffner syndrome
Kapur–Toriello syndrome