cardiomyopathy, dilated, 2l
MONDO:0979236Mondo
Findings
No curated finding names cardiomyopathy, dilated, 2l 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 · Juvenile onset · Neonatal onset · Second trimester onset
HPO, annotations 2026-09-02
Features
28 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.
- Abnormality of the coagulation cascadeHPOHP:0003256
- 1 of 1 reported patient
- CardiomegalyHPOHP:0001640
- 4 of 4 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 1 reported patient
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 2 reported patients
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Intercostal retractionsHPOHP:0030864
- 1 of 1 reported patient
- Left atrial enlargementHPOHP:0031295
- 2 of 2 reported patients
- Left ventricular dilatationHPOHP:4000141
- 3 of 3 reported patients
Show the remaining 16
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 1 reported patient
- Left ventricular noncompactionHPOHP:0030682
- 1 of 1 reported patient
- LethargyHPOHP:0001254
- 1 of 1 reported patient
- Mitral regurgitationHPOHP:0001653
- 2 of 2 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 1 reported patient
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 1 reported patient
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.
- LDB3HGNC:15710
- Strong · ClinGen · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of