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Pelizaeus-Merzbacher disease, classic form

ORPHA:280219 · Clinical subtype · Subtype of disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(9)

  • AtaxiaHP:0001251
  • Cerebral hypomyelinationHP:0006808
  • Confluent hyperintensity of cerebral white matter on MRIHP:0040330
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • EEG with abnormally slow frequenciesHP:0011203
  • Global developmental delayHP:0001263
  • Mild intellectual disabilityHP:0001256
  • NystagmusHP:0000639

Frequent (79-30%)(15)

  • Abnormal pyramidal signHP:0007256
  • Abnormal speech patternHP:0002167
  • Abnormality of somatosensory evoked potentialsHP:0007377
  • AthetosisHP:0002305
  • Axial hypotoniaHP:0008936
  • Cognitive impairmentHP:0100543
  • Delayed ability to sitHP:0025336
  • DystoniaHP:0001332
  • Gait disturbanceHP:0001288
  • Head tremorHP:0002346
  • HypotoniaHP:0001252
  • Poor head controlHP:0002421
  • Spastic tetraparesisHP:0001285
  • SpasticityHP:0001257
  • TitubationHP:0030187

Occasional (29-5%)(3)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Dystonic gaitHP:0031954
  • Orofacial dyskinesiaHP:0002310