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Spontaneous periodic hypothermia

ORPHA:29822 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(7)

  • AtaxiaHP:0001251
  • FatigueHP:0012378
  • Gait disturbanceHP:0001288
  • HyperhidrosisHP:0000975
  • HypothermiaHP:0002045
  • Nausea and vomitingHP:0002017
  • PallorHP:0000980

Frequent (79-30%)(5)

  • ArrhythmiaHP:0011675
  • Reduced consciousnessHP:0004372
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • TremorHP:0001337

Occasional (29-5%)(4)

  • Abnormal pattern of respirationHP:0002793
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • DiarrheaHP:0002014
  • Skin rashHP:0000988