familial restrictive cardiomyopathy 6

Term ID

DOID:0061025

Synonyms

• RCM6
• restrictive cardiomyopathy 6

Definition

A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/29357359/

References

• MIM:619433

Ontology

Human Disease   ( DOID:0061025 )