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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Synonyms
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; ISPD-Related Muscle Diseases; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-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 alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). [from OMIM]

Available tests

50 tests are in the database for this condition.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD, CRPPA
    Summary: CDP-L-ribitol pyrophosphorylase A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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