tetralogy of fallot
Findings
No curated finding names tetralogy of fallot yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Definition from the Mondo Disease Ontology (MONDO:0008542), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Abnormal nasal morphologyHPOHP:0005105
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- Preauricular pitHPOHP:0004467
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Tetralogy of FallotHPOHP:0001636
- Frequent (30% to 79% of cases)
- Thin vermilion borderHPOHP:0000233
- Frequent (30% to 79% of cases)
- Underdeveloped supraorbital ridgesHPOHP:0009891
- Frequent (30% to 79% of cases)
Genes
9 genes
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.
- NKX2-5HGNC:2488
- Definitive · G2P · Autosomal dominant · 2015
- KDRHGNC:6307
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- ZFPM2HGNC:16700
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- GATA6HGNC:4174
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
1 name
Resolves to: tetralogy of fallot
- Also called
- ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle