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 INTELLECTUAL DISABILITY.
推出的年份: 1996
树号: C16.131.077.860, C16.320.565.398.850, C16.320.565.925.875, C18.452.584.500.937, C18.452.584.563.850, C18.452.648.398.850, C18.452.648.925.875
MeSH 单一 ID: D019082
进入的组:
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
早前的内容:
Abnormalities, Multiple (1967-1995)
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