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

Cardiomyopathy, dilated, 2c

Summary

Dilated cardiomyopathy-2C (CMD2C) is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life (Iuso et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see 115200. [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD2C, PPCS
    Summary: phosphopantothenoylcysteine synthetase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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