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ENCongenital Muscular Dystrophy-Dystroglycanopathy Type a (MDDGA)
Alias:
Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies
Mddga
Klissencephaly Type 2 with Muscular and Ocular Involvement
Lissencephaly Type 2 with Muscular and Ocular Involvement
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Congenital Muscular Dystrophy-Dystroglycanopathy Type a, also known as congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, is related to congenital muscular dystrophy-dystroglycanopathy type a11 and congenital muscular dystrophy-dystroglycanopathy type a6. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type a 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 eye and brain, and related phenotypes are nervous system and growth/size/body region
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MALACARDS
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