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.
SLO-syndrom — RSH-SLO syndrom — Smith-Lemli-Opitz syndrom, typ 1 — Smith-Lemli-Opitz syndrom, typ 2
Smith Lemli Opitz Syndrome — SLO Syndrome — SLO Syndromes — Syndrome, SLO — Syndromes, SLO — Hyperotosis Corticalis Generalisata Familiaris — RSH Syndrome — RSH Syndromes — Syndrome, RSH — Syndromes, RSH — RSH-SLO Syndrome — RSH SLO Syndrome — RSH-SLO Syndromes — Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung — Smith-Lemli-Opitz Syndrome, Type II — Smith Lemli Opitz Syndrome, Type II — Rutledge Lethal Multiple Congenital Anomaly Syndrome — Rutledge Friedman Harrod Syndrome — Smith-Lemli-Opitz Syndrome, Type 2 — Smith Lemli Opitz Syndrome, Type 2 — Lethal Acrodysgenital Syndrome — Acrodysgenital Syndrome, Lethal — Acrodysgenital Syndromes, Lethal — Lethal Acrodysgenital Syndromes — Syndrome, Lethal Acrodysgenital — 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