Orphanet: Zaburzenie podobne do ataksji telangiektazji

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Ataxia-telangiectasia-like disorder

Disease definition

A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.


Classification level: Disorder
  • Synonym(s):
    • ATLD
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.3
  • OMIM: 604391
  • UMLS: C1858391  C1859598
  • MeSH: -
  • GARD: -
  • MedDRA: -
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