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中文Developmental and Epileptic Encephalopathy 44 (DEE44)
Alias:
Dee44
Developmental and Epileptic Encephalopathy, 44
Epileptic Encephalopathy, Early Infantile, 44
Eiee44
Encephalopathy, Epileptic, Early Infantile, Type 44
Early Infantile Epileptic Encephalopathy 44
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发育性和癫痫性脑病44，也称为dee44，与发育性和癫痫性脑病和肾小管性囊性肾病3有关。与发育性和癫痫性脑病44有关的重要基因是UBA5（泛素样修饰激活酶5）。附属组织包括眼睛和大脑，相关表型为全球性发育延迟和肌张力障碍
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