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Resistance to thyrotropin-releasing hormone syndrome

ORPHA:99832 · Disease · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(19)

  • Abnormal circulating thyroglobulin concentrationHP:0025483
  • Abnormality of the nervous systemHP:0000707
  • Decreased circulating free T3HP:0032210
  • Decreased circulating T4 concentrationHP:0031507
  • Delayed skeletal maturationHP:0002750
  • DepressionHP:0000716
  • Dry skinHP:0000958
  • FatigueHP:0012378
  • Growth delayHP:0001510
  • Hoarse voiceHP:0001609
  • Increased circulating prolactin concentrationHP:0000870
  • LethargyHP:0001254
  • Neurodevelopmental delayHP:0012758
  • OverweightHP:0025502
  • Pituitary hypothyroidismHP:0008245
  • Prolonged neonatal jaundiceHP:0006579
  • Reduced circulating prolactin concentrationHP:0008202
  • Reduced radioactive iodine uptakeHP:0031219
  • Thyroid hypoplasiaHP:0005990

Excluded (0%)(4)

  • Autoimmune antibody positivityHP:0030057
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • GoiterHP:0000853
  • Maternal autoimmune diseaseHP:0011437