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 (1.45, 2.21, 2.35)* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.45, 2.21, 2.35)* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.45, 2.21, 2.35)* Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.45, 2.21, 2.35) |