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

Cardiomyopathy, dilated, 2H

Summary

CMD2H is an autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy (Verhagen et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARSA-I, ARSA1, ASNA-I, ASNA1, CMD2H, TRC40, GET3
    Summary: guided entry of tail-anchored proteins factor 3, ATPase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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