Orphanet: Lethal ataxia with deafness and optic atrophy

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Lethal ataxia with deafness and optic atrophy

Disease definition

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.


Classification level: Disorder
  • Synonym(s):
    • Arts syndrome
    • Lethal ataxia with hearing loss and optic atrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E79.8
  • OMIM: 301835
  • UMLS: C0796028
  • MeSH: C535388
  • GARD: 8756
  • MedDRA: -

Detailed information


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