cardiomyopathy, dilated, 2j
MONDO:0957984Mondo
Findings
No curated finding names cardiomyopathy, dilated, 2j yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
4 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
- 3 of 3 reported patients
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- 3 of 3 reported patients
- Congestive heart failureHPOHP:0001635
- 2 of 3 reported patients
- Secundum atrial septal defectHPOHP:0001684
- 1 of 3 reported patients
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.
- FLIIHGNC:3750
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2026
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of