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Athyreosis

ORPHA:95713 · Morphological anomaly · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(14)

  • Abdominal distentionHP:0003270
  • Abnormal circulating thyroglobulin concentrationHP:0025483
  • Abnormality of the faceHP:0000271
  • Coarse facial featuresHP:0000280
  • ConstipationHP:0002019
  • FatigueHP:0012378
  • Feeding difficultiesHP:0011968
  • HypersomniaHP:0100786
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Large fontanellesHP:0000239
  • MacroglossiaHP:0000158
  • Muscle weaknessHP:0001324
  • Thyroid agenesisHP:0008191

Frequent (79-30%)(11)

  • ColdnessHP:0033850
  • Facial edemaHP:0000282
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hoarse cryHP:0001615
  • LethargyHP:0001254
  • Prolonged neonatal jaundiceHP:0006579
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Umbilical herniaHP:0001537
  • Unconjugated hyperbilirubinemiaHP:0008282