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ENMuscular Dystrophy-Dystroglycanopathy , Type a, 1 (MDDGA1)
Alias:
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Hard Syndrome
Muscular Dystrophy-Dystroglycanopathy , Type A1
Cod-Md Syndrome
Mddga1
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A1
Hydrocephalus, Agyria, and Retinal Dysplasia
Walker-Warburg Congenital Muscular Dystrophy
Hydrocephalus-Agyria-Retinal Dysplasia
Muscle-Eye-Brain Disease Pomt1-Related
Walker-Warburg Syndrome Pomt1-Related
Muscle-Eye-Brain Disease
Cerebroocular Dysgenesis
Muscle Eye Brain Disease
Walker-Warburg Syndrome
Hard +/- E Syndrome
Warburg Syndrome
Wws
Cod
Meb
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Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as cerebroocular dysplasia-muscular dystrophy syndrome, is related to congenital muscular dystrophy-dystroglycanopathy type a2 and congenital muscular dystrophy-dystroglycanopathy type a6, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Affiliated tissues include eye and brain, and related phenotypes are seizure and global developmental delay
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