GTR Home > Conditions/Phenotypes > 3-Methylglutaconic aciduria type 3

Summary

Excerpted from the GeneReview: Costeff Syndrome
Costeff syndrome is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable.

Genes See tests for all associated and related genes

  • Also known as: MGA3, OPA3
    Summary: outer mitochondrial membrane lipid metabolism regulator OPA3

Clinical features

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