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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Synonyms
MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3

Summary

MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Available tests

69 tests are in the database for this condition.

Clinical tests (69 available)

Molecular Genetics 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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Imported from Human Phenotype Ontology (HPO)

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