auriculocondylar syndrome 1
MONDO:0011234Mondo
Findings
No curated finding names auriculocondylar syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.
Definition from the Mondo Disease Ontology (MONDO:0011234), read 2026-09-29. CC BY 4.0.
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.
- MicrognathiaHPOHP:0000347
- 13 of 19 reported patients
- GlossoptosisHPOHP:0000162
- 3 of 5 reported patients
- Narrow mouthHPOHP:0000160
- 7 of 14 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 4 reported patients
- Stenosis of the external auditory canalHPOHP:0000402
- 1 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 12 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.
- GNAI3HGNC:4387
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Illumina · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: auriculocondylar syndrome 1
- Also called
- auriculocondylar syndrome caused by mutation in GNAI3Auriculocondylar syndrome type 1GNAI3 auriculocondylar syndrome