Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
GMPPB GDP-mannose pyrophosphorylase B       | 3p21.31 | * Congenital Myasthenic syndrome related to GMPPB - (1.55, 2.31, 2.38, 11.37)* Muscle-eye-brain disease - MDDGA14 (1.55, 2.31, 2.38, 11.37)* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.55, 2.31, 2.38, 11.37) |