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中文Skraban-Deardorff Syndrome (SKDEAS)
Alias:
Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features
Skdeas
Intellectual Disability, Seizures, Abnormal Gait and Distinctive Facial Features
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
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斯克拉班-迪尔多夫综合症，又称智力障碍伴有癫痫、步态异常和独特的面部特征，与1q41-q42染色体缺失综合症和视觉癫痫有关。与斯克拉班-迪尔多夫综合症有关的重要基因是WDR26（WD重复域26）。附属组织包括大脑和松果体，相关表型为智力障碍和癫痫。
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