3-methylglutaconic aciduria type 3
MONDO:00097873-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
Also known as: OPA3 defect, 3-methylglutaconic aciduria caused by mutation in OPA3, Costeff optic atrophy syndrome, Costeff syndrome, MGA3, OPA3 3-methylglutaconic aciduria, autosomal recessive optic atrophy plus syndrome, autosomal recessive optic atrophy type 3
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