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

rare

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.

Identifiers
MONDO:0013160 OMIM:613156
Part of
Muscular dystrophy-dystroglycanopathy, type BMyopathy caused by variation in POMT2
Also known as
congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2 · congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2 · congenital muscular dystrophy-POMT2 related · MDDGB2 · muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2

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