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Fatal familial insomnia

ORPHA:466 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(4)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • DementiaHP:0000726
  • InsomniaHP:0100785
  • MyoclonusHP:0001336

Frequent (79-30%)(21)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Abnormally slow thought processHP:0031843
  • AnxietyHP:0000739
  • AtaxiaHP:0001251
  • Cognitive impairmentHP:0100543
  • DepressionHP:0000716
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Emotional labilityHP:0000712
  • EpiphoraHP:0009926
  • HallucinationsHP:0000738
  • HyperhidrosisHP:0000975
  • HypertensionHP:0000822
  • Laryngeal stridorHP:0006511
  • Reduced attention regulationHP:5200044
  • Short REM sleepHP:5200360
  • Short term memory impairmentHP:0033687
  • Sleep apneaHP:0010535
  • Sleep-wake cycle disturbanceHP:0006979
  • TachycardiaHP:0001649
  • Thalamic hypometabolism in FDG PETHP:0012660

Occasional (29-5%)(8)

  • Abnormal pineal melatonin secretionHP:0012689
  • Abnormal pyramidal signHP:0007256
  • ConstipationHP:0002019
  • DiplopiaHP:0000651
  • FeverHP:0001945
  • Increased circulating cortisol levelHP:0003118
  • Loss of speechHP:0002371
  • Weight lossHP:0001824

Excluded (0%)(1)

  • EEG with spike-wave complexesHP:0010850