Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
POMT2
Protein-O-mannosyltransferase 2




14q24.3
* Walker-Warburg syndrome - WWS (1.34, 2.22, 2.30)
* Muscle-eye-brain disease - MEB (1.34, 2.22, 2.30)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.34, 2.22, 2.30)
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.34, 2.22, 2.30)