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Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

ORPHA:566243 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(4)

  • GoiterHP:0000853
  • Inappropriately normal thyroid-stimulating hormone levelHP:0033075
  • Increased circulating free T4 concentrationHP:0033077
  • TachycardiaHP:0001649

Frequent (79-30%)(10)

  • Anti-thyroglobulin antibody positivityHP:0032069
  • Anti-thyroid peroxidase antibody positivityHP:0025379
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Delayed skeletal maturationHP:0002750
  • Elevated circulating reverse T3 concentrationHP:0034288
  • HyperactivityHP:0000752
  • Increased circulating free T3HP:0011788
  • Recurrent otitis mediaHP:0000403
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(5)

  • Elevated circulating thyroglobulin concentrationHP:0025484
  • Mild postnatal growth retardationHP:0001530
  • Neurodevelopmental delayHP:0012758
  • PalpitationsHP:0001962
  • Sensorineural hearing impairmentHP:0000407

Excluded (0%)(1)

  • Decreased thyroid-stimulating hormone levelHP:0031098