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中文Cdkl5-Deficiency Disorder (CDD)
Alias:
Cdkl5 Deficiency Disorder
Cdkl5 Disorder
Cdd
Early Infantile Epileptic Encephalopathy 2
Cdkl5-Related Epileptic Encephalopathy
Cdkl5-Related Epilepsy
Cdkl5 Encephalopathy
Cdkl5 Deficiency
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Cdkl5-缺陷症，也被称为cdkl5缺乏症，与常染色体显性遗传的颅面骨发育不全和颅面骨发育不全有关。与Cdkl5-缺陷症有关的重要基因是CDKL5（细胞周期依赖性激酶样5）。Eltanolone和Fenfluramine已在这种疾病的背景下被提及。附属组织包括眼睛和大脑，相关表型为全身性肌阵挛发作和步态障碍
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MALACARDS
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