label: Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2
label_lc: congenital muscular dystrophy-dystroglycanopathy with mental retardation type b2
description: "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan."