<unk>  (also SLOS, or 7-dehydrocholesterol reductase deficiency) 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, or DHCR7. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.
Smith–Lemli–Opitz syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Ellis-van Creveld syndrome
Landau-Kleffner syndrome
Rabson-Mendenhall syndrome
Cruveilhier-Baumgarten syndrome
Lawrence-Moon syndrome