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 INTELLECTUAL DISABILITY.

Descriptor ID	D019082
MeSH Number(s)	C16.131.077.860 C16.320.565.398.850 C16.320.565.925.875 C18.452.584.500.937 C18.452.648.398.850 C18.452.648.925.875
Concept/Terms	Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome Smith Lemli Opitz Syndrome RSH-SLO Syndrome RSH SLO Syndrome RSH-SLO Syndromes Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Lemli-Opitz Syndrome, Type I Smith-Lemli-Opitz Syndrome, Type I Smith Lemli Opitz Syndrome, Type I Smith-Lemli-Opitz Syndrome, Type 1 Smith Lemli Opitz syndrome, type 1 Smith-Lemli-Opitz Syndrome, Type II 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

Below are MeSH descriptors whose meaning is more general than "Smith-Lemli-Opitz Syndrome".

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Below are MeSH descriptors whose meaning is more specific than "Smith-Lemli-Opitz Syndrome".