Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
FKRP Fukutin-related protein       | 19q13.32 | * Walker-Warburg syndrome - WWS (1.47, 2.23, 2.37) * Muscle-eye-brain disease - MEB (1.47, 2.23, 2.37) * Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.47, 2.23, 2.37)* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.47, 2.23, 2.37)* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.47, 2.23, 2.37) |