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Congenital hypothyroidism due to maternal intake of antithyroid drugs

ORPHA:226313 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(5)

  • Abdominal distentionHP:0003270
  • Congenital hypothyroidismHP:0000851
  • Decreased circulating T4 concentrationHP:0031507
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • GoiterHP:0000853

Frequent (79-30%)(17)

  • Abnormal epiphysis morphologyHP:0005930
  • Absent ossification of capital femoral epiphysisHP:0008820
  • ConstipationHP:0002019
  • Delayed epiphyseal ossificationHP:0002663
  • Depressed nasal bridgeHP:0005280
  • Feeding difficulties in infancyHP:0008872
  • HypersomniaHP:0100786
  • HyporeflexiaHP:0001265
  • HypothermiaHP:0002045
  • Large for gestational ageHP:0001520
  • MacroglossiaHP:0000158
  • Moon faciesHP:0500011
  • Mottled pigmentationHP:0001070
  • Neonatal hypotoniaHP:0001319
  • Prolonged neonatal jaundiceHP:0006579
  • Protuberant abdomenHP:0001538
  • Umbilical herniaHP:0001537

Occasional (29-5%)(4)

  • BradycardiaHP:0001662
  • Dry skinHP:0000958
  • Large posterior fontanelleHP:0004491
  • Respiratory distressHP:0002098