congenital heart defects, multiple types, 4
Findings
No curated finding names congenital heart defects, multiple types, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014344), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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.
- Atrioventricular canal defectHPOHP:0006695
- 6 of 10 reported patients
- Left ventricular outflow tract obstructionHPOHP:0032092
- 2 of 10 reported patients
- Aortic valve stenosisHPOHP:0001650
- 1 of 10 reported patients
- Coarctation of aortaHPOHP:0001680
- 1 of 10 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 10 reported patients
- Tetralogy of FallotHPOHP:0001636
- 1 of 10 reported patients
- Ventricular septal defectHPO
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.
- NR2F2HGNC:7976
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: congenital heart defects, multiple types, 4
- Also called
- congenital heart defects, multiple types caused by mutation in NR2F2NR2F2 congenital heart defects, multiple types