Muscular Dystrophy-Dystroglycanopathy , Type a, 13 (MDDGA13)

Alias:
Muscular Dystrophy-Dystroglycanopathy , Type A13
Mddga13
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A13
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3gnt1-Related
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3gnt1-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A13
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type a, 13, also known as muscular dystrophy-dystroglycanopathy , type a13, is related to congenital muscular dystrophy-dystroglycanopathy type a13 and walker-warburg syndrome, and has symptoms including muscle spasticity and seizures. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 13 is B4GAT1 (Beta-1,4-Glucuronyltransferase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and O-linked glycosylation of mucins. Affiliated tissues include eye and brain, and related phenotypes are seizure and ventriculomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
9
2

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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