Mondo 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.
Uniprot Description An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.
Mondo Term and Equivalent IDs
MONDO:0013160: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2