label: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
label_lc: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), 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."