cardiomyopathy, dilated, 2I
MONDO:0957545Mondo
Findings
No curated finding names cardiomyopathy, dilated, 2I 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
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
3 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
- 5 of 5 reported patients
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- 2 of 2 reported patients
- Supraventricular tachycardiaHPOHP:0004755
- 2 of 2 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.
- CAP2HGNC:20039
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of