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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3


An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. [from NCI]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2, POMGNT1
    Summary: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Clinical features


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