← 返回搜尋

Rett syndrome

ORPHA:778 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(10)

  • Abnormal pattern of respirationHP:0002793
  • Absent speechHP:0001344
  • Developmental regressionHP:0002376
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • High-pitched cryHP:0025430
  • Motor stereotypyHP:0000733
  • Progressive language deteriorationHP:0007064
  • Progressive microcephalyHP:0000253
  • Stereotypical hand wringingHP:0012171

Frequent (79-30%)(11)

  • Abnormal muscle toneHP:0003808
  • BradykinesiaHP:0002067
  • BruxismHP:0003763
  • ColdnessHP:0033850
  • DystoniaHP:0001332
  • EEG abnormalityHP:0002353
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • Limb apraxiaHP:0030217
  • SeizureHP:0001250
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(13)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal CSF pyruvate family amino acid concentrationHP:0500231
  • AgitationHP:0000713
  • CholecystitisHP:0001082
  • Floppy infantHP:0008947
  • HyperammonemiaHP:0001987
  • Inability to walkHP:0002540
  • Increased circulating lactate concentrationHP:0002151
  • Increased circulating pyruvate concentrationHP:0003542
  • Increased CSF lactateHP:0002490
  • Increased serum leptinHP:0031793
  • ScoliosisHP:0002650
  • Sleep disturbanceHP:0002360

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

  • Primary microcephalyHP:0011451