| 单词 | Smith Lemli Opitz Syndrome,Type I |
| 释义 | Smith Lemli Opitz Syndrome,Type I《英文msh词典》Smith Lemli Opitz Syndrome,Type I [入口词] Smith Lemli Opitz Syndrome,Type I [主题词] Smith-Lemli-Opitz Syndrome [英文释义] 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. |
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