Muscular Dystrophy-Dystroglycanopathy , Type a, 11 (MDDGA11)

Alias:
Mddga11
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A11
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3galnt2-Related
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A11
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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11型,也称为mddga11,与先天性肌营养不良-肌糖原病11型有关。与肌营养不良-肌糖原病11型相关的基因是B3GALNT2(β-1,3-N-乙酰半乳糖胺转移酶2)。相关组织包括眼睛和大脑。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
10
12

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

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PMID
Journal
Year
IF
No Data Found!
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