3-methylglutaconic aciduria type 3 (DOID:0110004)
Alliance: disease page
Synonyms: 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; Costeff optic atrophy syndrome; Costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; Iraqi-Jewish optic atrophy plus; MGA3
Alt IDs: OMIM:258501, ORDO:67047
Definition: A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.