congenital heart defects, multiple types, 9
MONDO:0859532Mondo
Findings
No curated finding names congenital heart defects, multiple types, 9 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 · Infantile onset · Miscarriage · Antenatal onset · Second trimester onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
16 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.
- Hypoplastic left ventricleHPOHP:0004383
- 3 of 4 reported patients
- Truncus arteriosusHPOHP:0001660
- 5 of 10 reported patients
- Aberrant right subclavian arteryHPOHP:0031632
- 1 of 4 reported patients
- Cystic hygromaHPOHP:0000476
- 1 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 4 reported patients
- Left axis deviationHPOHP:0033568
- 1 of 4 reported patients
- Low-set earsHPOHP:0000369
- 1 of 4 reported patients
- Mitral atresiaHPOHP:0011560
- 1 of 4 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 4 reported patients
- Single ventricle of indeterminate morphologyHPOHP:0011680
- 1 of 4 reported patients
- Aortopulmonary collateral arteriesHPOHP:0031834
- 1 of 6 reported patients
- Double outlet right ventricleHPOHP:0001719
- 1 of 6 reported patients
Show the remaining 4
- Pulmonary artery atresiaHPOHP:0004935
- 1 of 6 reported patients
- Pulmonic stenosisHPOHP:0001642
- 1 of 6 reported patients
- Transposition of the great arteriesHPOHP:0001669
- 1 of 6 reported patients
- Unbalanced atrioventricular canal defectHPOHP:0011579
- 1 of 6 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.
- PLXND1HGNC:9107
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2023