About The Medical Condition RSH Syndromes
Find the definition of the medical term RSH Syndromes. RSH Syndromes defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
RSH Syndromes
| RSH Syndromes Medical Condition |
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What's The Definition Of The Medical Condition RSH Syndromes?
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.
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