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Autosomal dominant optic atrophy plus syndrome

Disease definition

A rare variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

ORPHA:1215

Classification level: Disorder
  • Synonym(s):
    • DOA+
    • Optic atrophy-deafness-polyneuropathy-myopathy syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: H47.2
  • OMIM: 125250  165199  616648
  • UMLS: C1832466
  • MeSH: C535351
  • GARD: 5243
  • MedDRA: -

Detailed information

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