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Pendred syndrome

Disease definition

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

ORPHA:705

  • Synonym(s):
    • Goiter-deafness syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E07.1
  • OMIM: 274600
  • UMLS: C0271829
  • MeSH: C536648
  • GARD: 4271
  • MedDRA: -

Detailed information

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