Medical Definition of Smith-lemli-opitz syndrome
1.
Autosomal recessive disorder characterised by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.
(12 Dec 1998)
Lexicographical Neighbors of Smith-lemli-opitz Syndrome
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