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中文Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities (NEDMILEG)
Alias:
Nedmileg
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities, Autosomal Dominant
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, Gait Abnormalities, Autosomal Dominant
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神经发育障碍伴小头畸形、语言障碍、癫痫和步态异常，也称为nedmileg。与神经发育障碍伴小头畸形、语言障碍、癫痫和步态异常有关的重要基因是NARS1（天冬酰胺-TRNA合成酶1）。相关组织包括大脑，相关表型包括智力障碍和共济失调。
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