testicular anomalies with or without congenital heart disease
MONDO:0014239Mondo
Findings
No curated finding names testicular anomalies with or without congenital heart disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- CryptorchidismHPOHP:0000028
- 3 of 3 reported patients
- Inguinal herniaHPOHP:0000023
- 3 of 3 reported patients
- Ambiguous genitaliaHPOHP:0000062
- 2 of 3 reported patients
- Corpus cavernosum hypoplasiaHPOHP:4000094
- 1 of 3 reported patients
- MicrophallusHPOHP:0030260
- 1 of 3 reported patients
- Perineal hypospadiasHPOHP:0000051
- 1 of 3 reported patients
- Tetralogy of FallotHPOHP:0001636
- 1 of 3 reported patients
- Abnormality of thyroid physiologyHPOHP:0002926
- 0 of 3 reported patients
- Dysplastic testisHPOHP:0008733
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.
- GATA4HGNC:4173
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Moderate · PanelApp Australia · Autosomal dominant · 2025