cardiomyopathy, dilated, 2G
Findings
No curated finding names cardiomyopathy, dilated, 2G 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 early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
Definition from the Mondo Disease Ontology (MONDO:0030887), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
16 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.
- Aortic regurgitationHPOHP:0001659
- 1 of 1 reported patient
- Cerebral hemorrhageHPOHP:0001342
- 1 of 1 reported patient
- Complete right bundle branch blockHPOHP:0011712
- 1 of 1 reported patient
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 1 reported patient · Congenital onset
- 2 of 2 reported patients
- Left atrial enlargementHPOHP:0031295
- 1 of 1 reported patient
- Mitral regurgitationHPOHP:0001653
- 1 of 1 reported patient
- Monomorphic ventricular tachycardia
Show the remaining 4
- Cardiogenic shockHPOHP:0030149
- 1 of 2 reported patients
- Multifocal atrial tachycardiaHPOHP:0011701
- 1 of 2 reported patients
- Myocardial sarcomeric disarrayHPOHP:0031333
- 1 of 2 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 1 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.
- HGNC:6648HGNC:6648
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: cardiomyopathy, dilated, 2G
- Also called
- CMD2G