NR2F2 related multiple congenital anomalies/dysmorphic syndrome
Findings
No curated finding names NR2F2 related multiple congenital anomalies/dysmorphic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.
Definition from the Mondo Disease Ontology (MONDO:0800458), read 2026-09-29. CC BY 4.0.
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
- Definitive · ClinGen · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: NR2F2 related multiple congenital anomalies/dysmorphic syndrome
- Also called
- ARP1-related multiple congenital anomalies/dysmorphic syndromeCOUPTFII-related multiple congenital anomalies/dysmorphic syndromeTCOUP2-related multiple congenital anomalies/dysmorphic syndrome