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Nasu-Hakola disease

ORPHA:2770 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(17)

  • Abnormal adipose tissue morphologyHP:0009124
  • Abnormal epiphysis morphologyHP:0005930
  • ArthralgiaHP:0002829
  • Atypical behaviorHP:0000708
  • Bone cystHP:0012062
  • Bone painHP:0002653
  • Cerebral cortical atrophyHP:0002120
  • Developmental regressionHP:0002376
  • DisinhibitionHP:0000734
  • Frontal lobe dementiaHP:0000727
  • IrritabilityHP:0000737
  • Limitation of joint mobilityHP:0001376
  • Memory impairmentHP:0002354
  • Personality changesHP:0000751
  • Reduced bone mineral densityHP:0004349
  • Skeletal dysplasiaHP:0002652
  • VentriculomegalyHP:0002119

Frequent (79-30%)(8)

  • Abnormal speech patternHP:0002167
  • Abnormality of movementHP:0100022
  • Cerebral calcificationHP:0002514
  • ChoreaHP:0002072
  • Disturbed sensory perceptionHP:0010524
  • Oculomotor apraxiaHP:0000657
  • SeizureHP:0001250
  • SpasticityHP:0001257

Occasional (29-5%)(3)

  • Acute leukemiaHP:0002488
  • Functional abnormality of the gastrointestinal tractHP:0012719
  • HydrocephalusHP:0000238