Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
LARGE1
LARGE xylosyl- and glucuronyltransferase 1




22q12.3
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.32)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.32)