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Beta-ureidopropionase deficiency

ORPHA:65287 · Disease · Disorder

HPO 表現型（共 16 項）

Frequent (79-30%)(9)

  • Elevated urinary dihydrothymine levelHP:6000119
  • Elevated urinary dihydrouracil levelHP:6000118
  • Elevated urinary N-carbamoyl-beta-alanine levelHP:6000279
  • Elevated urinary N-carbamyl-beta-aminoisobutyric acid levelHP:6000623
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Reduced hepatic beta-ureidopropionase activityHP:6000082
  • SeizureHP:0001250

Occasional (29-5%)(7)

  • AutismHP:0000717
  • Cerebral atrophyHP:0002059
  • Cortical dysplasiaHP:0002539
  • Delayed myelinationHP:0012448
  • Delayed speech and language developmentHP:0000750
  • Growth delayHP:0001510
  • MicrocephalyHP:0000252