Description

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. SLOS is due to an inborn error of cholesterol synthesis and is caused by mutations in the DHCR7 gene (11q13.4) leading to deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase that converts 7-dehydrocholesterol (7DHC) to cholesterol.

External Information

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