About The Medical Condition Smith-Lemli-Opitz Syndrome, Type I
Find the definition of the medical term Smith-Lemli-Opitz Syndrome, Type I. Smith-Lemli-Opitz Syndrome, Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Smith-Lemli-Opitz Syndrome, Type I
| Smith-Lemli-Opitz Syndrome, Type I Medical Condition |
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What's The Definition Of The Medical Condition Smith-Lemli-Opitz Syndrome, Type I?
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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