optic atrophy 15
MONDO:0957935Mondo
Findings
No curated finding names optic atrophy 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
8 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.
- Central scotomaHPOHP:0000603
- 1 of 1 reported patient
- DyschromatopsiaHPOHP:0007641
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 3 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
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.
- MCATHGNC:29622
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of