dilated cardiomyopathy 2D

Term ID

DOID:0081160

Synonyms

Definition

A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. https://pubmed.ncbi.nlm.nih.gov/32514796/

References

• OMIM:619371

Ontology

Human Disease   ( DOID:0081160 )