Muscular Dystrophy-Dystroglycanopathy , Type a, 1 (MDDGA1)

肌营养不良-肌营养不良蛋白聚糖病A1型（先天性脑眼异常）(来自ICD-11)

别称:

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Hard Syndrome

Muscular Dystrophy-Dystroglycanopathy , Type A1

Cod-Md Syndrome

Mddga1

Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1

Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related

Dystrophy, Muscular, Dystroglycanopathy , Type A1

Hydrocephalus, Agyria, and Retinal Dysplasia

Walker-Warburg Congenital Muscular Dystrophy

Hydrocephalus-Agyria-Retinal Dysplasia

Muscle-Eye-Brain Disease Pomt1-Related

Walker-Warburg Syndrome Pomt1-Related

Muscle-Eye-Brain Disease

Cerebroocular Dysgenesis

Muscle Eye Brain Disease

Walker-Warburg Syndrome

Hard +/- E Syndrome

Warburg Syndrome

Wws

Cod

Meb

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肌营养不良-肌糖原病1型，也称为脑眼发育不良-肌营养不良症，与肌营养不良-肌糖原病1型2和肌营养不良-肌糖原病1型6有关，症状包括癫痫发作。与肌营养不良-肌糖原病1型相关的基因是POMT1（蛋白质O-甲基转移酶1），其相关通路/超级通路包括糖基化疾病和粘蛋白的O-连接糖基化。相关组织包括眼睛和大脑，相关表型为癫痫发作和全球发育延迟。

查看原文参与反馈