DeCS Server - List Exact Term

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DeCS

Descriptor English:

Smith-Lemli-Opitz Syndrome

Descriptor Spanish:

Síndrome de Smith-Lemli-Opitz

Descriptor Portuguese:

Síndrome de Smith-Lemli-Opitz

Tree Number:

Definition English:

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.

History Note English:

1996

Allowable Qualifiers English:

Record Number:

32609

Unique Identifier:

D019082

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