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Smith–Lemli–Opitz syndrome
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Recessive genetic condition
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Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. 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...

Instance of
developmental defect during embryogenesis
Rare disease
class of disease
Subclass of
Dyslipidemia
Syndrome
syndromic renal or urinary tract malformation
metabolic disease with cataract
Ptosis (eyelid)
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
syndromic neurometabolic disease with non-X-linked intellectual disability
syndromic dyslipidemia
Disease
Wikidata