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ENCongenital Muscular Dystrophy-Dystroglycanopathy Type A12
Alias:
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Pomk-Related
Mddga12
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Congenital Muscular Dystrophy-Dystroglycanopathy Type A12, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a12, is related to muscular dystrophy-dystroglycanopathy , type a, 12 and muscular dystrophy-dystroglycanopathy , type b, 3. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 is POMK (Protein O-Mannose Kinase), and among its related pathways/superpathways are O-linked glycosylation of mucins and Defective DPM3 causes DPM3-CDG. Affiliated tissues include eye and brain, and related phenotypes are muscle and behavior/neurological
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