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Pendred syndrome

ORPHA:705 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(4)

  • Abnormality of the inner earHP:0000359
  • Enlarged vestibular aqueductHP:0011387
  • Hypoplasia of the cochleaHP:0008586
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(2)

  • GoiterHP:0000853
  • HypothyroidismHP:0000821

Occasional (29-5%)(9)

  • Abnormal speech patternHP:0002167
  • AtaxiaHP:0001251
  • HyperparathyroidismHP:0000843
  • Intellectual disabilityHP:0001249
  • NephropathyHP:0000112
  • Respiratory insufficiencyHP:0002093
  • Thyroid carcinomaHP:0002890
  • Tracheal stenosisHP:0002777
  • VertigoHP:0002321