Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Alias:
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A11
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A11
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related
Mddga11
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a11, is related to muscular dystrophy-dystroglycanopathy , type a, 11 and congenital muscular dystrophy-dystroglycanopathy type a. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 is B3GALNT2 (Beta-1,3-N-Acetylgalactosaminyltransferase 2). Affiliated tissues include eye and brain, and related phenotype is Increased shRNA abundance (Z-score > 2).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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7
34
12

Medical Symptom

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Gene & Mutation

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References Literature

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