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GTR Home > Conditions/Phenotypes > Dilated cardiomyopathy 1AA

Dilated cardiomyopathy 1AA

Synonyms
ACTN2-Related Dilated Cardiomyopathy; CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION

Summary

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. [from MONDO]

Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ, ACTN2
    Summary: actinin alpha 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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