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Ataxia-tapetoretinal degeneration syndrome

Disease definition

A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.

ORPHA:1178

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Unknown 
  • Age of onset: Infancy, Childhood, Adolescent
  • ICD-10: -
  • OMIM: 272600
  • UMLS: C1848932
  • MeSH: -
  • GARD: -
  • MedDRA: -
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