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Dopa-responsive dystonia due to sepiapterin reductase deficiency

ORPHA:70594 · Disease · Disorder

HPO 表現型（共 26 項）

Frequent (79-30%)(21)

  • Abnormality of the noseHP:0000366
  • Atypical behaviorHP:0000708
  • Axial hypotoniaHP:0008936
  • BradykinesiaHP:0002067
  • Cognitive impairmentHP:0100543
  • Delayed speech and language developmentHP:0000750
  • DrowsinessHP:0002329
  • DystoniaHP:0001332
  • HyperhidrosisHP:0000975
  • HyperreflexiaHP:0001347
  • Hypomimic faceHP:0000338
  • Intellectual disabilityHP:0001249
  • Limb hypertoniaHP:0002509
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Oculogyric crisisHP:0010553
  • PtosisHP:0000508
  • RigidityHP:0002063
  • Sleep disturbanceHP:0002360
  • Temperature instabilityHP:0005968
  • TremorHP:0001337

Occasional (29-5%)(5)

  • Cerebral palsyHP:0100021
  • Growth delayHP:0001510
  • MicrocephalyHP:0000252
  • SeizureHP:0001250
  • Small for gestational ageHP:0001518