Smith–Lemli–Opitz syndrome

Common card · No. 489651

Smith–Lemli–Opitz syndrome 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.

Read on Wikipedia · Image Sydney S. Gellis and Murray Feingold, Public domain