Definition: 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.
Other names Syndrome, Lethal Acrodysgenital; Smith Lemli Opitz Syndrome, Type II; Smith Lemli Opitz Syndrome, Type I; Smith Lemli Opitz Syndrome, Type 2; Smith Lemli Opitz Syndrome; Reductase Deficiency, 7-Dehydrocholesterol; Reductase Deficiencies, 7-Dehydrocholesterol; RSH-SLO Syndromes; RSH SLO Syndrome; Lethal Acrodysgenital Syndromes; Deficiency, 7-Dehydrocholesterol Reductase; Deficiencies, 7-Dehydrocholesterol Reductase; Acrodysgenital Syndromes, Lethal; Acrodysgenital Syndrome, Lethal; 7-Dehydrocholesterol Reductase Deficiencies; 7 Dehydrocholesterol Reductase Deficiency; Smith-Lemli-Opitz Syndrome, Type II; Smith-Lemli-Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type 2; Smith-Lemli-Opitz Syndrome, Type 1
