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中文Neurodevelopmental Disorder with Epilepsy and Hemochromatosis (NEDEPH)
Alias:
Ferro-Cerebro-Cutaneous Syndrome
Nedeph
Fccs
Cerebro-Cutaneous Syndrome with Iron Overload
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神经发育障碍伴癫痫和血色素沉着症，又称铁-脑-皮综合征，与多种先天性异常-低张力-癫痫综合征2和多种先天性异常-神经发育综合征，X连锁有关。与神经发育障碍伴癫痫和血色素沉着症有关的重要基因是PIGA（磷脂酰肌醇糖基锚生物合成A类）。附属组织包括肝脏和皮肤，相关表型为癫痫和全球发育延迟
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