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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Synonyms
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED

Summary

An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. [from NCI]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 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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