dilated cardiomyopathy 2C

Term ID

DOID:0081159

Synonyms

Definition

A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. https://pubmed.ncbi.nlm.nih.gov/29754768/

References

• MIM:618189

Ontology

Human Disease   ( DOID:0081159 )