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ENCongenital Muscular Dystrophy-Dystroglycanopathy Type A2
Alias:
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A2
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related
Mddga2
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Congenital Muscular Dystrophy-Dystroglycanopathy Type A2, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a2, is related to muscular dystrophy-dystroglycanopathy , type a, 2 and congenital muscular dystrophy with intellectual disability. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include eye and brain.
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