congenital heart defects, multiple types, 8, with or without heterotaxy
MONDO:0859213Mondo
Findings
No curated finding names congenital heart defects, multiple types, 8, with or without heterotaxy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
44 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.
- Anterior pituitary hypoplasiaHPOHP:0010627
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 5 of 5 reported patients
- Ectopic posterior pituitaryHPOHP:0011755
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- Meckel diverticulumHPOHP:0002245
- 1 of 1 reported patient
- Patent ductus arteriosusHPOHP:0001643
- 2 of 2 reported patients
- Pulmonic stenosisHPOHP:0001642
- 2 of 2 reported patients
- Solitary median maxillary central incisorHPOHP:0006315
- 1 of 1 reported patient
- Truncus arteriosusHPOHP:0001660
- 1 of 1 reported patient
- Double outlet right ventricleHPOHP:0001719
- 4 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
- High palateHPOHP:0000218
- 2 of 3 reported patients
Show the remaining 32
- Midface retrusionHPOHP:0011800
- 2 of 3 reported patients
- DextrocardiaHPOHP:0001651
- 3 of 5 reported patients
- Dextrotransposition of the great arteriesHPOHP:0031348
- 3 of 5 reported patients
- Unbalanced atrioventricular canal defectHPOHP:0011579
- 3 of 5 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 5 reported patients
- Dental crowdingHPOHP:0000678
- 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.
- SMAD2HGNC:6768
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2015