Disease

Walker-Warburg Syndrome

About the Disease
Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as hard syndrome, is related to congenital muscular dystrophy-dystroglycanopathy type a2 and congenital muscular dystrophy-dystroglycanopathy type a5, 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, brain and pons, and related phenotypes are hydrocephalus and global developmental delay

Common Targets
B4GAT1 | POMGNT1 | POMT1 | POMGNT2 | FKTN | CRPPA | POMT2 | LARGE1 | DAG1 | FKRP | DPM3 | B3GALNT2 | POMK

疾病靶点研报
Walker-Warburg Syndrome

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