cardiomyopathy, dilated, 2D
Findings
No curated finding names cardiomyopathy, dilated, 2D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0030300), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dilated cardiomyopathyHPOHP:0001644
- 6 of 6 reported patients · Infantile onset
- Interstitial cardiac fibrosisHPOHP:0031329
- 2 of 2 reported patients
- Perinuclear cardiomyocyte vacuolizationHPOHP:0033997
- 2 of 2 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 5 of 5 reported patients
- Mitral regurgitationHPOHP:0001653
- 3 of 5 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 3 of 5 reported patients
- Tricuspid regurgitation
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RPL3LHGNC:10351
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2026
- Limited · Illumina · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: cardiomyopathy, dilated, 2D
- Also called
- CMD2D