Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Alias:
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A1
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related
Mddga1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a1, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy-dystroglycanopathy , type c, 1. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include eye and brain, and related phenotypes are nervous system and muscle
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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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10
62
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Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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