auriculocondylar syndrome 3
MONDO:0014312Mondo
Findings
No curated finding names auriculocondylar syndrome 3 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
10 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.
- Question mark earHPOHP:0030022
- 9 of 9 reported patients
- MicrognathiaHPOHP:0000347
- 4 of 9 reported patients
- RetrognathiaHPOHP:0000278
- 4 of 9 reported patients
- Bifid uvulaHPOHP:0000193
- 2 of 9 reported patients
- Bilateral conductive hearing impairmentHPOHP:0008513
- 1 of 9 reported patients
- EctropionHPOHP:0000656
- 1 of 9 reported patients
- GlossoptosisHPOHP:0000162
- 1 of 9 reported patients
- Laryngeal cleftHPOHP:0008751
- 1 of 9 reported patients
- Stenosis of the external auditory canalHPOHP:0000402
- 1 of 9 reported patients
- Full cheeksHPOHP:0000293
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.
- EDN1HGNC:3176
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: auriculocondylar syndrome 3
- Also called
- Auriculocondylar syndrome type 3