Smith–Lemli–Opitz syndrome
Recessive genetic condition / From Wikipedia, the free encyclopedia
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Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis.[1] It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.[2]
Quick Facts Other names, Specialty ...
Smith–Lemli–Opitz syndrome | |
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Other names | SLOS, or 7-dehydrocholesterol reductase deficiency |
Child with Smith-Lemli-Opitz syndrome | |
Specialty | Medical genetics |
Usual onset | Present at birth |
Frequency | 1 in 20,000 to 1 in 60,000 |
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