Conditions / Genetic
3-methylglutaconic aciduria type 3
info · Genetic
A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
Signs and symptoms
- 3-Methylglutaric aciduria
- Optic atrophy
- 3-Methylglutaconic aciduria
- Babinski sign
- Dysarthria
- Ataxia
- Chorea
- Abnormality of extrapyramidal motor function
- Cognitive impairment
- Reduced visual acuity
Also known as: 3-methylglutaconic aciduria type III; Costeff optic atrophy syndrome; Costeff syndrome; Iraqi-Jewish optic atrophy plus; MGA3