Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
FKRP Fukutin-related protein       | 19q13.32 | * Walker-Warburg syndrome - WWS (1.50, 2.22, 2.36) * Muscle-eye-brain disease - MEB (1.50, 2.22, 2.36) * Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.50, 2.22, 2.36)* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.50, 2.22, 2.36)* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.50, 2.22, 2.36) |