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




1p34.1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.39, 2.23, 2.27)
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.39, 2.23, 2.27)
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.39, 2.23, 2.27)
* Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.39, 2.23, 2.27)