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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

Synonyms
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED

Summary

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). [from OMIM]

Available tests

58 tests are in the database for this condition.

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Clinical tests (58 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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