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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type a, 9, also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related, is related to congenital muscular dystrophy-dystroglycanopathy type a9. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 9 is DAG1 (Dystroglycan 1). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability, severe and absent speech
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
10
8

Medical Symptom

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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
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