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中文Proximal 16p11.2 Microdeletion Syndrome
Alias:
Proximal Monosomy 16p11.2
Proximal Del(16)(p11.2)
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16p11.2近端微缺失综合症，也称为16p11.2近端单体型，与16p11.2缺失综合症有关，593-kb。与16p11.2近端微缺失综合症相关的重要基因是SH2B1（SH2B适配蛋白1）。附属组织包括肾脏和心脏，相关表型为全球发育延迟和自闭行为
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MALACARDS
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