Syndrome

Smith-Lemli-Opitz Syndrome

AMW:DIS:160020

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.

Pathology clinical

Read knowledge page ↗ Open graph Embed card

Graph assertions

Smith-Lemli-Opitz Syndrome has parent Abnormalities, Multiple

Smith-Lemli-Opitz Syndrome has parent Dyslipidemias

Smith-Lemli-Opitz Syndrome has parent Lipid Metabolism, Inborn Errors

Smith-Lemli-Opitz Syndrome has parent Steroid Metabolism, Inborn Errors

Graph assertions

Embed this node