heterotaxy, visceral, 6, autosomal
MONDO:0013887Mondo
Findings
No curated finding names heterotaxy, visceral, 6, autosomal 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
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Common atriumHPOHP:0011565
- 1 of 2 reported patients
- DextrocardiaHPOHP:0001651
- 1 of 2 reported patients
- Double outlet right ventricleHPOHP:0001719
- 1 of 2 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 2 reported patients
- Right aortic archHPOHP:0012020
- 1 of 2 reported patients
- Situs inversus totalisHPOHP:0001696
- 1 of 2 reported patients
- Total anomalous pulmonary venous returnHPOHP:0005160
- 1 of 2 reported patients
- Transposition of the great arteriesHPOHP:0001669
- 1 of 2 reported patients
- Unbalanced atrioventricular canal defectHPOHP:0011579
- 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.
- CFAP53HGNC:26530
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: heterotaxy, visceral, 6, autosomal
- Also called
- heterotaxy, visceral, 6, autosomal recessive