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Thyroid ectopia

ORPHA:95712 · Morphological anomaly · Disorder

HPO 表現型（共 26 項）

Obligate (100%)(1)

  • Ectopic thyroidHP:0100028

Very frequent (99-80%)(15)

  • Abdominal distentionHP:0003270
  • Abnormality of the faceHP:0000271
  • Abnormality of the thyroid glandHP:0000820
  • Coarse facial featuresHP:0000280
  • ConstipationHP:0002019
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • HypersomniaHP:0100786
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • JaundiceHP:0000952
  • Large fontanellesHP:0000239
  • Lingual thyroidHP:0100029
  • MacroglossiaHP:0000158
  • Muscle weaknessHP:0001324
  • Umbilical herniaHP:0001537

Frequent (79-30%)(8)

  • Cold intoleranceHP:6000855
  • Dry skinHP:0000958
  • FatigueHP:0012378
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hoarse voiceHP:0001609
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322

Occasional (29-5%)(2)

  • DysphagiaHP:0002015
  • DysphoniaHP:0001618