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GTR Home > Conditions/Phenotypes > Cardiomyopathy, dilated, 2E

Cardiomyopathy, dilated, 2E

Summary

CMD2E is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation (Vasilescu et al., 2018; Jones et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD2E, CMH17, JP-2, JP2, JPH2
    Summary: junctophilin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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