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Pelizaeus-Merzbacher disease, connatal form

ORPHA:280210 · Clinical subtype · Subtype of disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(7)

  • Abnormal myelinationHP:0012447
  • Cerebral hypomyelinationHP:0006808
  • GliosisHP:0002171
  • Lower limb amyotrophyHP:0007210
  • Lower limb spasticityHP:0002061
  • NystagmusHP:0000639
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(14)

  • Abnormal morphology of musculature of pharynxHP:0430015
  • Absent speechHP:0001344
  • AtaxiaHP:0001251
  • Confluent hyperintensity of cerebral white matter on MRIHP:0040330
  • DysarthriaHP:0001260
  • Dystonic gaitHP:0031954
  • Functional motor deficitHP:0004302
  • HypotoniaHP:0001252
  • Inability to walkHP:0002540
  • Laryngeal stridorHP:0006511
  • PachygyriaHP:0001302
  • Pendular nystagmusHP:0012043
  • Poor head controlHP:0002421
  • TitubationHP:0030187

Occasional (29-5%)(6)

  • Cerebellar hypoplasiaHP:0001321
  • Failure to thriveHP:0001508
  • Gait disturbanceHP:0001288
  • Nasogastric tube feedingHP:0040288
  • Respiratory failureHP:0002878
  • Short statureHP:0004322