Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
POMGNT1
O-linked mannose beta1,2-N-acetylglucosaminyltransferase




1p34.1
* Walker-Warburg syndrome - WWS (1.35, 2.24, 2.28)
* Muscle-eye-brain disease - MEB (1.35, 2.24, 2.28)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.35, 2.24, 2.28)
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.35, 2.24, 2.28)
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.35, 2.24, 2.28)