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GTR Home > Conditions/Phenotypes > Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Synonyms
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5; SYNE2-Related Emery-Dreifuss Muscular Dystrophy

Summary

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. [from MONDO]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDMD5, KASH2, NUA, NUANCE, Nesp2, Nesprin-2, SYNE-2, TROPH, SYNE2
    Summary: spectrin repeat containing nuclear envelope protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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