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Saccharopinuria

ORPHA:3124 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(2)

  • Abnormal circulating enzyme concentrationHP:0011021
  • HyperlysinemiaHP:0002161

Frequent (79-30%)(3)

  • Growth abnormalityHP:0001507
  • HyperlysinuriaHP:0003297
  • Short statureHP:0004322

Occasional (29-5%)(14)

  • CitrullinuriaHP:0032397
  • Cognitive impairmentHP:0100543
  • CystinuriaHP:0003131
  • Distal sensory impairmentHP:0002936
  • Elevated plasma citrullineHP:0011966
  • Gait ataxiaHP:0002066
  • HyperammonemiaHP:0001987
  • HypercystinemiaHP:0500151
  • Mental deteriorationHP:0001268
  • Mild intellectual disabilityHP:0001256
  • Neurodevelopmental delayHP:0012758
  • SeizureHP:0001250
  • Spastic diplegiaHP:0001264
  • TremorHP:0001337