RSH Syndrome
[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. ( CSP )]
UMLS (CSP) C0175694- Congenital Abnormality
- Disease or Syndrome
Relation/PAR: Abnormalities, Multiple
Lipid Metabolism, Inborn Errors
syndrome
inborn lipid/lipoprotein disorder
congenital disorder
Lipid Metabolism, Inborn Errors
syndrome
inborn lipid/lipoprotein disorder
congenital disorder
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