Cortical Dysplasia, Complex, with Other Brain Malformations 3 (CDCBM3)
Alias:
Complex Cortical Dysplasia with Other Brain Malformations 3
Cdcbm3
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 3
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Description
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Cortical Dysplasia, Complex, with Other Brain Malformations 3,也被称为复杂性皮质发育不良合并其他脑畸形3,与挛缩、翼状胬肉和脊椎融合综合征1a以及厚皮症有关,症状包括癫痫发作。与Cortical Dysplasia, Complex, with Other Brain Malformations 3相关的基因是KIF2A(Kinesin Family Member 2A)。相关组织包括大脑和皮质,相关表型包括眼震和宫内发育迟缓。