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L-Arginine:glycine amidinotransferase deficiency

ORPHA:35704 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(3)

  • Cognitive impairmentHP:0100543
  • Global developmental delayHP:0001263
  • Reduced tissue arginine:glycine amidinotransferase activityHP:6000572

Frequent (79-30%)(10)

  • Decreased CSF creatinine concentrationHP:0034597
  • Decreased serum creatinineHP:0012101
  • Decreased urinary creatine levelHP:6000748
  • Decreased urine creatinine levelHP:6000115
  • Decreased urine guanidinoacetic acid levelHP:0034888
  • Delayed speech and language developmentHP:0000750
  • Muscle weaknessHP:0001324
  • MyopathyHP:0003198
  • Reduced brain creatine level by MRSHP:0025051
  • Reduced circulating creatine concentrationHP:0034292

Occasional (29-5%)(4)

  • Atypical behaviorHP:0000708
  • Gait disturbanceHP:0001288
  • HypotoniaHP:0001252
  • SeizureHP:0001250