Prev Term: smell
Next Term: Smith Magenis syndrome
Smith Lemli Opitz syndrome
Used for:
Smith-Opitz-Inborn syndrome
See for:
RSH Syndrome
Broader Terms:
congenital disorder
Broader Terms:
inborn lipid /lipoprotein disorder
Broader Terms:
syndrome
Related Terms:
autosomal recessive trait
Related Terms:
mental retardation
Scope Note:
autosomal recessive disorder characterized 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.
Term Number:
5002-0023
Send your comments to: Melody Lowe