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Fatty acid hydroxylase-associated neurodegeneration

ORPHA:329308 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(4)

  • FallsHP:0002527
  • Mental deteriorationHP:0001268
  • Progressive gait ataxiaHP:0007240
  • Progressive spastic paraplegiaHP:0007020

Frequent (79-30%)(20)

  • AnarthriaHP:0002425
  • Atrophy of the spinal cordHP:0006827
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis atrophyHP:0006855
  • Color vision test abnormalityHP:0030584
  • DysarthriaHP:0001260
  • Expressive aphasiaHP:0002427
  • Generalized dystoniaHP:0007325
  • Horizontal nystagmusHP:0000666
  • Hypoplasia of the corpus callosumHP:0002079
  • Loss of ambulationHP:0002505
  • Optic atrophyHP:0000648
  • Progressive extrapyramidal movement disorderHP:0007153
  • Progressive spastic paraparesisHP:0007199
  • Progressive spastic quadriplegiaHP:0002478
  • Slow decrease in visual acuityHP:0007924
  • Supranuclear gaze palsyHP:0000605
  • Upper motor neuron dysfunctionHP:0002493
  • Visual field defectHP:0001123

Occasional (29-5%)(2)

  • Focal-onset seizureHP:0007359
  • StrabismusHP:0000486

Very rare (<4-1%)(5)

  • AnxietyHP:0000739
  • Bipolar affective disorderHP:0007302
  • DepressionHP:0000716
  • DysphagiaHP:0002015
  • Peripheral neuropathyHP:0009830