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Holocarboxylase synthetase deficiency

ORPHA:79242 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(9)

  • AnorexiaHP:0002039
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • IrritabilityHP:0000737
  • KeratoconjunctivitisHP:0001096
  • Nausea and vomitingHP:0002017
  • Perioral eczemaHP:0011127
  • SeizureHP:0001250
  • Weight lossHP:0001824

Frequent (79-30%)(4)

  • HyperammonemiaHP:0001987
  • Organic aciduriaHP:0001992
  • Respiratory distressHP:0002098
  • TachypneaHP:0002789

Occasional (29-5%)(7)

  • AlopeciaHP:0001596
  • AtaxiaHP:0001251
  • ComaHP:0001259
  • Desquamation of skin soon after birthHP:0007549
  • Eczematoid dermatitisHP:0000964
  • LethargyHP:0001254
  • ThrombocytopeniaHP:0001873