Neurodegeneration with ataxia and late-onset optic atrophy

Preferred Label : Neurodegeneration with ataxia and late-onset optic atrophy;

Symbol : NDAXOA;

Type : Phenotype, molecular basis known;

Prefixed ID : #619259;

Details

Origin ID

619259;

UMLS CUI

C5543254;

Genes related to phenotype
- Succinate dehydrogenase complex, flavoprotein subunit a [OMIM gene]
HPO term(s)
- 3-Methylglutaconic aciduria [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cardiomegaly [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar atrophy [HPO term]
- Clumsiness [HPO term]
- Congestive heart failure [HPO term]
- Depression [HPO term]
- Diplopia [HPO term]
- Dysesthesia [HPO term]
- Fatigue [HPO term]
- Gait ataxia [HPO term]
- Gait disturbance [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Headache [HPO term]
- Increased hepatic glycogen content [HPO term]
- Limb ataxia [HPO term]
- Limb muscle weakness [HPO term]
- Loss of voice [HPO term]
- Middle age onset [HPO term]
- Myalgia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Peripheral visual field loss [HPO term]
- Postural instability [HPO term]
- Truncal ataxia [HPO term]
- Unsteady gait [HPO term]
- Vertigo [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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