Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
POMT1 Protein-O-mannosyltransferase 1       | 9q34.1 | * Walker-Warburg syndrome - WWS (1.46, 2.18, 2.32)* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.46, 2.18, 2.32)* Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 (1.46, 2.18, 2.32)* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.46, 2.18, 2.32) |