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Thyroid hypoplasia

ORPHA:95720 · Morphological anomaly · Disorder

HPO 表現型(共 15 項)

Very frequent (99-80%)(12)

  • Abdominal distentionHP:0003270
  • Abnormality of the faceHP:0000271
  • Coarse facial featuresHP:0000280
  • ConstipationHP:0002019
  • FatigueHP:0012378
  • Growth delayHP:0001510
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • JaundiceHP:0000952
  • Large fontanellesHP:0000239
  • MacroglossiaHP:0000158
  • Thyroid hypoplasiaHP:0005990

Frequent (79-30%)(3)

  • Global developmental delayHP:0001263
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322