diaphragmatic hernia 4, with cardiovascular defects
MONDO:0859571Mondo
Findings
No curated finding names diaphragmatic hernia 4, with cardiovascular defects 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
- Antenatal onset
HPO, annotations 2026-09-02
Features
28 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.
- Pulmonary hypoplasiaHPOHP:0002089
- 3 of 3 reported patients
- Diaphragmatic eventrationHPOHP:0009110
- 2 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 3 reported patients
- PolyhydramniosHPOHP:0001561
- 2 of 3 reported patients
- 11 pairs of ribsHPOHP:0000878
- 1 of 3 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 3 reported patients
- Aortic root aneurysmHPOHP:0002616
- 1 of 3 reported patients
- Aortopulmonary collateral arteriesHPOHP:0031834
- 1 of 3 reported patients
- Aortopulmonary windowHPOHP:0011604
- 1 of 3 reported patients
- Aplasia of the left hemidiaphragmHPOHP:0009112
- 1 of 3 reported patients
- Bulbous noseHPOHP:0000414
- 1 of 3 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 3 reported patients
Show the remaining 16
- Coronal cleft vertebraeHPOHP:0003417
- 1 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 3 reported patients
- Finger syndactylyHPOHP:0006101
- 1 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 3 reported patients
- Low-set earsHPOHP:0000369
- 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.
- ALDH1A2HGNC:15472
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of