/muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Rare Disease

MONDO:0013160

Also Known As

congenital muscular dystrophy-POMT2 relatedcongenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2MDDGB2muscular dystrophy, congenital, Pomt2-relatedmuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2

Definition

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.