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6-pyruvoyl-tetrahydropterin synthase deficiency

ORPHA:13 · Clinical subtype · Subtype of disorder

HPO 表現型（共 31 項）

Frequent (79-30%)(2)

  • HypotoniaHP:0001252
  • OpisthotonusHP:0002179

Occasional (29-5%)(29)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • AgitationHP:0000713
  • AtaxiaHP:0001251
  • BradykinesiaHP:0002067
  • ChoreaHP:0002072
  • ChoreoathetosisHP:0001266
  • ClonusHP:0002169
  • Delayed speech and language developmentHP:0000750
  • DepressionHP:0000716
  • DrowsinessHP:0002329
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Excessive salivationHP:0003781
  • FallsHP:0002527
  • Global developmental delayHP:0001263
  • Hyperkinetic movementsHP:0002487
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • HypsarrhythmiaHP:0002521
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • MyoclonusHP:0001336
  • Oculogyric crisisHP:0010553
  • PallorHP:0000980
  • Poor head controlHP:0002421
  • PtosisHP:0000508
  • RestlessnessHP:0000711
  • RigidityHP:0002063
  • SeizureHP:0001250