optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Findings
No curated finding names optic atrophy 10 with or without ataxia, intellectual disability, and seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures.
Definition from the Mondo Disease Ontology (MONDO:0020737), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Color vision defectHPOHP:0000551
- 4 of 4 reported patients
- Optic disc pallorHPOHP:0000543
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- PhotophobiaHPOHP:0000613
- 5 of 6 reported patients
- Central scotomaHPOHP:0000603
- 2 of 5 reported patients
- AtaxiaHPOHP:0001251
- 2 of 6 reported patients
- Mild intellectual disabilityHPOHP:0001256
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.
- RTN4IP1HGNC:18647
- Definitive · G2P · Autosomal recessive · 2016
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: optic atrophy 10 with or without ataxia, intellectual disability, and seizures
- Also called
- OPA10optic atrophy 10 with or without ataxia, mental retardation, and seizuresRTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizuresRTN4IP1-related optic atrophy with or without neurological features