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Familial benign copper deficiency

ORPHA:1551 · Disease · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(2)

  • Abnormality of immune system physiologyHP:0010978
  • Decreased circulating copper concentrationHP:0011967

Frequent (79-30%)(6)

  • AcneHP:0001061
  • Deep philtrumHP:0002002
  • HypotoniaHP:0001252
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(4)

  • AnemiaHP:0001903
  • Aplasia/Hypoplasia of the foveaHP:0008060
  • Diaphyseal undertubulationHP:0005019
  • Early baldingHP:0002234