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Smith-Lemli-Opitz-Syndrom
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Beschreibung:
An autosomal recessive disorder of 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 , growth deficiency, and .
Synonym(s):
RSH-Syndrom /
SLO-Syndrom /
Smith-Lemli-Opitz-Syndrom, Typ I /
RSH-Syndrom, Typ I /
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(NLM)®
(DIMDI - Deutsche Fassung)
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