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NAD(P)HX epimerase deficiency

ORPHA:555407 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(1)

  • AtaxiaHP:0001251

Frequent (79-30%)(12)

  • ConfusionHP:0001289
  • Developmental regressionHP:0002376
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EEG with abnormally slow frequenciesHP:0011203
  • Gait disturbanceHP:0001288
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HypotoniaHP:0001252
  • Increased CSF lactateHP:0002490
  • Respiratory failureHP:0002878
  • SeizureHP:0001250
  • TremorHP:0001337

Occasional (29-5%)(14)

  • AnxietyHP:0000739
  • Atypical behaviorHP:0000708
  • Brain atrophyHP:0012444
  • Cerebellar atrophyHP:0001272
  • Cerebral edemaHP:0002181
  • LeukoencephalopathyHP:0002352
  • Localized skin lesionHP:0011355
  • MyelopathyHP:0002196
  • MyoclonusHP:0001336
  • NystagmusHP:0000639
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • SpasticityHP:0001257
  • StrabismusHP:0000486