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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Synonyms
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9; WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED

Summary

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). [from OMIM]

Available tests

38 tests are in the database for this condition.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9, DAG1
    Summary: dystroglycan 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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