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Pelizaeus-Merzbacher disease

ORPHA:702 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(17)

  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • CachexiaHP:0004326
  • Cerebral cortical atrophyHP:0002120
  • Developmental regressionHP:0002376
  • Failure to thrive in infancyHP:0001531
  • Gait disturbanceHP:0001288
  • HypotoniaHP:0001252
  • Joint stiffnessHP:0001387
  • KyphosisHP:0002808
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Premature birthHP:0001622
  • ScoliosisHP:0002650
  • SpasticityHP:0001257
  • Visual impairmentHP:0000505

Frequent (79-30%)(14)

  • Abnormal speech patternHP:0002167
  • Abnormality of the urinary systemHP:0000079
  • Abnormality of visual evoked potentialsHP:0000649
  • Arteriovenous malformationHP:0100026
  • Bowel incontinenceHP:0002607
  • ChoreoathetosisHP:0001266
  • DystoniaHP:0001332
  • Hearing impairmentHP:0000365
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250
  • Short statureHP:0004322

Occasional (29-5%)(1)

  • Peripheral neuropathyHP:0009830