← 返回搜尋

Familial thyroid dyshormonogenesis

ORPHA:95716 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(2)

  • Decreased circulating T4 concentrationHP:0031507
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925

Frequent (79-30%)(12)

  • Abnormal epiphysis morphologyHP:0005930
  • Congenital hypothyroidismHP:0000851
  • ConstipationHP:0002019
  • Delayed cranial suture closureHP:0000270
  • Delayed proximal femoral epiphyseal ossificationHP:0008828
  • Feeding difficulties in infancyHP:0008872
  • GoiterHP:0000853
  • Large posterior fontanelleHP:0004491
  • Neurodevelopmental delayHP:0012758
  • Prolonged neonatal jaundiceHP:0006579
  • Thyroid defect in oxidation and organification of iodideHP:0008263
  • Umbilical herniaHP:0001537

Occasional (29-5%)(14)

  • Abnormal circulating thyroglobulin concentrationHP:0025483
  • BradycardiaHP:0001662
  • Depressed nasal bridgeHP:0005280
  • Facial edemaHP:0000282
  • HyporeflexiaHP:0001265
  • HypothermiaHP:0002045
  • HypotoniaHP:0001252
  • Increased radioactive iodine uptakeHP:0031220
  • Intellectual disabilityHP:0001249
  • LethargyHP:0001254
  • MacroglossiaHP:0000158
  • Neonatal hyperbilirubinemiaHP:0003265
  • Positive perchlorate discharge testHP:0025482
  • Reduced radioactive iodine uptakeHP:0031219

Very rare (<4-1%)(1)

  • Sensorineural hearing impairmentHP:0000407

Excluded (0%)(1)

  • Maternal autoimmune diseaseHP:0011437