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Dihydropyrimidinuria

ORPHA:38874 · Disease · Disorder

HPO 表現型（共 20 項）

Frequent (79-30%)(6)

  • Elevated urinary dihydrothymine levelHP:6000119
  • Elevated urinary dihydrouracil levelHP:6000118
  • Elevated urinary thymine levelHP:6000331
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250
  • UraciluriaHP:0012127

Occasional (29-5%)(13)

  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Coarse facial featuresHP:0000280
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • MacrocephalyHP:0000256
  • MicrocephalyHP:0000252
  • Neurodevelopmental delayHP:0012758
  • Villous atrophyHP:0011473
  • VomitingHP:0002013

Very rare (<4-1%)(1)

  • Developmental regressionHP:0002376