Duane retraction syndrome 2
Findings
No curated finding names Duane retraction syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011444), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- AmblyopiaHPOHP:0000646
- Duane anomalyHPOHP:0009921
- StrabismusHPOHP:0000486
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.
- CHN1HGNC:1943
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: Duane retraction syndrome 2
- Also called
- CHN1 Duane retraction syndromeDuane retraction syndrome caused by mutation in CHN1Duane retraction syndrome type 2