Duane retraction syndrome 3 with or without deafness
Findings
No curated finding names Duane retraction syndrome 3 with or without deafness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.
Definition from the Mondo Disease Ontology (MONDO:0014880), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Hearing impairmentHPOHP:0000365
- 3 of 14 reported patients
- Duane anomalyHPOHP:0009921
- Impaired ocular abductionHPOHP:0000634
- Impaired ocular adductionHPOHP:0000542
- Palpebral fissure narrowing on adductionHPOHP:0000661
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.
- MAFBHGNC:6408
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: Duane retraction syndrome 3 with or without deafness
- Also called
- Duane retraction syndrome caused by mutation in MAFBDURS3MAFB Duane retraction syndrome