deafness, congenital heart defects, and posterior embryotoxon
MONDO:0060713Mondo
Findings
No curated finding names deafness, congenital heart defects, and posterior embryotoxon 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
6 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.
- Posterior embryotoxonHPOHP:0000627
- 7 of 7 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 6 of 7 reported patients
- Peripheral pulmonary artery stenosisHPOHP:0004969
- 5 of 7 reported patients · Congenital onset
- Abnormal vestibular functionHPOHP:0001751
- 2 of 7 reported patients
- Tetralogy of FallotHPOHP:0001636
- 2 of 7 reported patients · Congenital onset
- Ventricular septal defectHPOHP:0001629
- 2 of 7 reported patients · Congenital onset
Where it sits
- A kind of