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Cataract-ataxia-deafness syndrome

Disease definition

Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.


Classification level: Disorder
  • Synonym(s):
    • Cataract-ataxia-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G11.2
  • OMIM: 212710
  • UMLS: C0796123
  • MeSH: C538283
  • GARD: 1141
  • MedDRA: -
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