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中文Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities (NEDHIB)
Alias:
Nedhib
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神经发育障碍伴低张力和可变智力和行为异常，也称为nedhib。与神经发育障碍伴低张力和可变智力和行为异常有关的重要基因是POLR2A（RNA聚合酶II亚基A）。相关组织包括大脑和苍白球，相关表型为全身性低张力和斜视
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MALACARDS
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