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3-methylglutaconic aciduria type 3

ORPHA:67047

  • Synonym(s):
    • 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
    • MGA3
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E71.1
  • OMIM: 258501
  • UMLS: C0574084
  • MeSH: C535311
  • GARD: 5663
  • MedDRA: -

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