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Cochleosaccular degeneration-cataract syndrome

Disease definition

Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.

ORPHA:3233

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Adult
  • ICD-10: H83.8
  • ICD-11: LD2H.Y
  • OMIM: 120040
  • UMLS: C1861512
  • MeSH: C536432
  • GARD: 9418
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.