DISEASES

Disease-gene associations mined from literature

Human genes for Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome [DOID:14692]

Smith-Lemli-Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.

Synonyms:  Smith-Lemli-Opitz syndrome,  DOID:14692,  SmithLemliOpitz syndrome,  Smith-Lemli-Opitz disease,  Smith-Lemli-Opitz disorder ...

Linkouts:  OMIM