Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b

Alias:
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation
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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
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,也称为Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,缓解型,伴有或不伴有智力障碍,与Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,缓解型,伴有或不伴有智力发育障碍和阿基里斯腱囊肿有关。与Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b相关的基因是HEPACAM(肝细胞和星形胶质细胞粘附分子)。相关表型为巨脑和巨脑。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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9
55
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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