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Phosphoribosylpyrophosphate synthetase superactivity

ORPHA:3222 · Disease · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(3)

  • AtaxiaHP:0001251
  • HyperuricemiaHP:0002149
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(5)

  • Abnormal aortic morphologyHP:0001679
  • Abnormal speech patternHP:0002167
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Renal insufficiencyHP:0000083

Occasional (29-5%)(5)

  • Abnormality of eye movementHP:0000496
  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638
  • HypertensionHP:0000822
  • StrabismusHP:0000486