optic atrophy 14
MONDO:0957824Mondo
Findings
No curated finding names optic atrophy 14 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
- Middle age onset
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.
- Constriction of peripheral visual fieldHPOHP:0001133
- 2 of 2 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 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.
- HGNC:25979HGNC:25979
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of