optic atrophy 9
MONDO:0014571Mondo
Findings
No curated finding names optic atrophy 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
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.
- Optic atrophyHPOHP:0000648
- 2 of 2 reported patients · Young adult onset
- Optic disc pallorHPOHP:0000543
- 2 of 2 reported patients · Childhood onset
- Paracentral scotomaHPOHP:0030528
- 2 of 2 reported patients · Young adult onset
- Red-green dyschromatopsiaHPOHP:0000642
- 2 of 2 reported patients · Young adult onset
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 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.
- ACO2HGNC:118
- Definitive · ClinGen · Semidominant · 2024
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
2 names
Resolves to: optic atrophy 9
- Also called
- ACO2 autosomal recessive isolated optic atrophyautosomal recessive isolated optic atrophy caused by mutation in ACO2