Mesh term Smith-Lemli-Opitz Syndrome
Browse to parent terms:Abnormalities, Multiple
Dyslipidemias
Lipid Metabolism, Inborn Errors
Steroid Metabolism, Inborn Errors
Description
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.Search for this term in our Faculty Database
View this term at the NCBI website
