neurodegeneration with ataxia and late-onset optic atrophy
MONDO:0031006Mondo
Findings
No curated finding names neurodegeneration with ataxia and late-onset optic atrophy 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
29 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.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 2 of 2 reported patients
- CardiomegalyHPOHP:0001640
- 3 of 3 reported patients
- CardiomyopathyHPOHP:0001638
- 3 of 3 reported patients
- DiplopiaHPOHP:0000651
- 2 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 2 reported patients
- HeadacheHPOHP:0002315
- 2 of 2 reported patients
- Increased hepatic glycogen contentHPOHP:0006568
- 1 of 1 reported patient
- Limb muscle weaknessHPOHP:0003690
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 4 of 4 reported patients
- Peripheral visual field lossHPOHP:0007994
- 2 of 2 reported patients
- Unsteady gaitHPOHP:0002317
- 2 of 2 reported patients
- VertigoHPOHP:0002321
- 2 of 2 reported patients
Show the remaining 17
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 2 reported patients
- DysesthesiaHPOHP:0012534
- 1 of 2 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 1 of 2 reported patients
- Limb ataxiaHPOHP:0002070
- 1 of 2 reported patients
- Loss of voiceHPOHP:0001686
- 1 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.
- SDHAHGNC:10680
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: neurodegeneration with ataxia and late-onset optic atrophy
- Also called
- NDAXOA