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ENMuscular Dystrophy-Dystroglycanopathy , Type B, 6 (MDDGB6)
Alias:
Muscular Dystrophy-Dystroglycanopathy Type B6
Mddgb6
Mdc1d
Muscular Dystrophy, Congenital, Type 1d
Congenital Muscular Dystrophy Type 1d
Muscular Dystrophy-Dystroglycanopathy Congenital with Impaired Intellectual Development B6
Dystrophy, Muscular, Dystroglycanopathy , Type B6
Muscular Dystrophy, Congenital, Large-Related
Congenital Muscular Dystrophy Large-Related
Muscular Dystrophy Large-Related
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Muscular Dystrophy-Dystroglycanopathy , Type B, 6, also known as muscular dystrophy-dystroglycanopathy type b6, is related to ablepharon-macrostomia syndrome and muscular dystrophy-dystroglycanopathy , type a, 1. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include skeletal muscle and brain, and related phenotypes are hypotonia and global developmental delay
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