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ENMuscular Dystrophy-Dystroglycanopathy , Type B, 3 (MDDGB3)
Alias:
Mddgb3
Muscular Dystrophy-Dystroglycanopathy , Type B3
Muscular Dystrophy-Dystroglycanopathy Type B3
Muscular Dystrophy-Dystroglycanopathy Congenital with Impaired Intellectual Development B3
Dystrophy, Muscular, Dystroglycanopathy , Type B3
Muscular Dystrophy, Congenital, Pomgnt1-Related
Congenital Muscular Dystrophy Pomgnt1-Related
Muscular Dystrophy Congenital Pomgnt1-Related
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Muscular Dystrophy-Dystroglycanopathy , Type B, 3, also known as mddgb3, is related to muscular dystrophy-dystroglycanopathy , type a, 3 and retinitis pigmentosa 76. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include brain and pons, and related phenotypes are intellectual disability and microcephaly
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