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Hyperprolinemia type 2

ORPHA:79101 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(10)

  • Abnormal cerebrospinal fluid morphologyHP:0002921
  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Atypical behaviorHP:0000708
  • Global developmental delayHP:0001263
  • HydroxyprolinuriaHP:0003080
  • HyperprolinemiaHP:0008358
  • Increased urine alpha-ketoglutarate concentrationHP:0012402
  • Intellectual disabilityHP:0001249
  • ProlinuriaHP:0003137
  • SeizureHP:0001250

Frequent (79-30%)(12)

  • Chronic fatigueHP:0012432
  • Delayed speech and language developmentHP:0000750
  • EEG with generalized sharp slow wavesHP:0011199
  • Exercise intoleranceHP:0003546
  • Generalized-onset seizureHP:0002197
  • HyperalaninemiaHP:0003348
  • HyperglycinemiaHP:0002154
  • Increased CSF protein concentrationHP:0002922
  • Muscle spasmHP:0003394
  • Reduced circulating vitamin B6 circulatingHP:0008326
  • Sleep disturbanceHP:0002360
  • Unsteady gaitHP:0002317

Occasional (29-5%)(29)

  • Abdominal painHP:0002027
  • Abnormality of eye movementHP:0000496
  • Aggressive behaviorHP:0000718
  • AnxietyHP:0000739
  • AreflexiaHP:0001284
  • Atonic seizureHP:0010819
  • Autistic behaviorHP:0000729
  • ConfusionHP:0001289
  • DepressionHP:0000716
  • DiarrheaHP:0002014
  • Distal sensory impairmentHP:0002936
  • DysesthesiaHP:0012534
  • DysphagiaHP:0002015
  • Early onset absence seizuresHP:0011152
  • EncephalopathyHP:0001298
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Feeding difficultiesHP:0011968
  • HallucinationsHP:0000738
  • Increased CSF lactateHP:0002490
  • Mild global developmental delayHP:0011342
  • MyalgiaHP:0003326
  • OphthalmoparesisHP:0000597
  • Peripheral neuropathyHP:0009830
  • Psychotic mentationHP:0001345
  • Renal insufficiencyHP:0000083
  • Short attention spanHP:0000736
  • Speech articulation difficultiesHP:0009088
  • Status epilepticusHP:0002133
  • Vertical supranuclear gaze palsyHP:0000511