cardiac valvular defect, developmental
MONDO:0008913Mondo
Findings
No curated finding names cardiac valvular defect, developmental 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
15 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.
- CyanosisHPOHP:0000961
- 2 of 6 reported patients
- Left atrial enlargementHPOHP:0031295
- 2 of 6 reported patients
- Mitral regurgitationHPOHP:0001653
- 2 of 6 reported patients
- Pulmonary artery atresiaHPOHP:0004935
- 2 of 6 reported patients
- Subpulmonary stenosisHPOHP:0034348
- 2 of 6 reported patients
- Tricuspid atresiaHPOHP:0011662
- 2 of 6 reported patients
- Ventricular septal defectHPOHP:0001629
- 2 of 6 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 6 reported patients
- Double inlet left ventricleHPOHP:0011555
- 1 of 6 reported patients
- Hypoplasia of right ventricleHPOHP:0004762
- 1 of 6 reported patients
- Left aortic arch with cervical origin of the right subclavian arteryHPOHP:0011591
- 1 of 6 reported patients
- Muscular ventricular septal defectHPOHP:0011623
- 1 of 6 reported patients
Show the remaining 3
- Pulmonic stenosisHPOHP:0001642
- 1 of 6 reported patients
- Tricuspid stenosisHPOHP:0010446
- 1 of 6 reported patients
- Valvular pulmonary stenosisHPOHP:0034350
- 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.
- PLD1HGNC:9067
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020