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GTR Home > Conditions/Phenotypes > Cardiomyopathy, familial restrictive, 6

Cardiomyopathy, familial restrictive, 6

Summary

Familial restrictive cardiomyopathy-6 (RCM6) is characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death (Louw et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see RCM1 (115210). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MKLP2, RAB6KIFL, RCM6, KIF20A
    Summary: kinesin family member 20A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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