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ENMuscular Dystrophy-Dystroglycanopathy , Type a, 12 (MDDGA12)
Alias:
Mddga12
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomk-Related
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Pomk-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A12
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Muscular Dystrophy-Dystroglycanopathy , Type a, 12, also known as mddga12, is related to congenital muscular dystrophy-dystroglycanopathy type a12. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 12 is POMK (Protein O-Mannose Kinase). Affiliated tissues include eye and brain, and related phenotypes are seizure and agenesis of corpus callosum
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MALACARDS
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