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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy type B6

Muscular dystrophy-dystroglycanopathy type B6

Synonyms
LARGE-Related Muscle Diseases; MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6

Summary

MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). 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

43 tests are in the database for this condition.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LARGE, MDC1D, MDDGA6, MDDGB6, LARGE1
    Summary: LARGE xylosyl- and glucuronyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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