Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrom

Engelsk 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.

Svenska synonymer

SLO-syndrom RSH-SLO syndrom Smith-Lemli-Opitz syndrom, typ 1 Smith-Lemli-Opitz syndrom, typ 2

Engelska synonymer

Smith Lemli Opitz Syndrome RSH-SLO Syndrome RSH SLO Syndrome RSH-SLO Syndromes Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Hyperotosis Corticalis Generalisata Familiaris RSH Syndrome RSH Syndromes Syndrome, RSH Syndromes, RSH SLO Syndrome SLO Syndromes Syndrome, SLO Syndromes, SLO 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 2 Smith Lemli Opitz Syndrome, Type 2 Lethal Acrodysgenital Syndrome Acrodysgenital Syndrome, Lethal Acrodysgenital Syndromes, Lethal Lethal Acrodysgenital Syndromes Syndrome, Lethal Acrodysgenital Rutledge Friedman Harrod Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome 7-Dehydrocholesterol Reductase Deficiency 7-Dehydrocholesterol Reductase Deficiencies Deficiencies, 7-Dehydrocholesterol Reductase Deficiency, 7-Dehydrocholesterol Reductase Reductase Deficiencies, 7-Dehydrocholesterol Reductase Deficiency, 7-Dehydrocholesterol