Tags: Disease.
Smith–Lemli–Opitz syndrome (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.
