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Folinic acid-responsive seizures

ORPHA:79097 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(4)

  • AtaxiaHP:0001251
  • Decreased CSF 5-methyltetrahydrofolate concentrationHP:0012446
  • Global developmental delayHP:0001263
  • SeizureHP:0001250

Frequent (79-30%)(12)

  • Abdominal distentionHP:0003270
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Cerebellar atrophyHP:0001272
  • Cerebral hypomyelinationHP:0006808
  • Delayed myelinationHP:0012448
  • EEG with generalized slow activityHP:0010845
  • Elevated CSF neopterin levelHP:0040204
  • EncephalopathyHP:0001298
  • Functional motor deficitHP:0004302
  • Multifocal epileptiform dischargesHP:0010841
  • Respiratory distressHP:0002098

Occasional (29-5%)(22)

  • Abnormality of movementHP:0100022
  • ApneaHP:0002104
  • Atonic seizureHP:0010819
  • Broad-based gaitHP:0002136
  • ChoreaHP:0002072
  • Clonic seizureHP:0020221
  • Developmental regressionHP:0002376
  • DystoniaHP:0001332
  • Frontotemporal cerebral atrophyHP:0006892
  • Gait disturbanceHP:0001288
  • Generalized myoclonic seizureHP:0002123
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • HypsarrhythmiaHP:0002521
  • IrritabilityHP:0000737
  • MyopiaHP:0000545
  • Optic atrophyHP:0000648
  • Poor speechHP:0002465
  • Sensorineural hearing impairmentHP:0000407
  • Sleep disturbanceHP:0002360
  • Spastic tetraparesisHP:0001285
  • Status epilepticusHP:0002133