Muscular Dystrophy-Dystroglycanopathy , Type a, 9 (MDDGA9)

Alias:
Walker-Warburg Syndrome or Muscle-Eye Brain Disease, Dag1-Related
Muscular Dystrophy-Dystroglycanopathy , Type A9
Mddga9
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A9
Muscle-Eye-Brain Disease with Bilateral Multicystic Leucodystrophy
Meb Disease with Bilateral Multicystic Leucodystrophy
Dystrophy, Muscular, Dystroglycanopathy , Type A9
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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
肌营养不良-肌糖原病A型9型,也称为沃克-沃伯格综合症或肌肉-眼-脑病,DAG1相关,与先天性肌营养不良-肌糖原病A型9有关。与肌营养不良-肌糖原病A型9相关的基因是DAG1(肌糖原1)。相关组织包括眼睛和大脑,相关表型为智力障碍,严重且无语言能力。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
1
10
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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