heterotaxy, visceral, 2, autosomal
MONDO:0011546Mondo
Findings
No curated finding names heterotaxy, visceral, 2, autosomal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 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.
- DextrocardiaHPOHP:0001651
- 2 of 3 reported patients
- Intestinal malrotationHPOHP:0002566
- 2 of 3 reported patients
- Transposition of the great arteriesHPOHP:0001669
- 2 of 3 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 3 reported patients
- AspleniaHPOHP:0001746
- 1 of 3 reported patients
- Bilateral superior vena cavaHPOHP:0033379
- 1 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 3 reported patients
- PolyspleniaHPOHP:0001748
- 1 of 3 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:18292HGNC:18292
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: heterotaxy, visceral, 2, autosomal
- Also called
- DTGA2transposition of the great arteries, dextro-looped 2