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Up to: Myopathy caused by variation in POMT2 · Muscular dystrophy-dystroglycanopathy, type B
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
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.
This condition has no sub-types.