Other terms
Smith Lemli Opitz Syndrome,RSH-SLO Syndrome,RSH SLO Syndrome,RSH-SLO Syndromes,Smith-Lemli-Opitz Syndrome, Type II,Smith Lemli Opitz Syndrome, Type II,Smith-Lemli-Opitz Syndrome, Type 2,Smith Lemli Opitz Syndrome, Type 2,Rutledge Lethal Multiple Congenital Anomaly Syndrome,Lethal Acrodysgenital Syndrome,Acrodysgenital Syndrome, Lethal,Acrodysgenital Syndromes, Lethal,Lethal Acrodysgenital Syndromes,Syndrome, Lethal Acrodysgenital,Rutledge Friedman Harrod Syndrome,7-Dehydrocholesterol Reductase Deficiency,7 Dehydrocholesterol Reductase Deficiency,7-Dehydrocholesterol Reductase Deficiencies,Deficiencies, 7-Dehydrocholesterol Reductase,Deficiency, 7-Dehydrocholesterol Reductase,Reductase Deficiencies, 7-Dehydrocholesterol,Reductase Deficiency, 7-Dehydrocholesterol,Smith-Lemli-Opitz Syndrome, Type I,Smith Lemli Opitz Syndrome, Type I,Smith-Lemli-Opitz Syndrome, Type 1,Smith Lemli Opitz syndrome, type 1
Description
Smith-Lemli-Opitz Syndrome: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and MENTAL RETARDATION.
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