《英文msh詞典》RSH-SLO Syndrome
[入口詞] RSH-SLO Syndrome
[主題詞] Smith-Lemli-Opitz Syndrome
[英文釋義] Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly,mental retardation,unusual facies,and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase,resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.