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Primary dystonia, DYT4 type

ORPHA:98805 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(3)

  • DysphoniaHP:0001618
  • Generalized dystoniaHP:0007325
  • Laryngeal dystoniaHP:0012049

Frequent (79-30%)(6)

  • Eunuchoid habitusHP:0003782
  • Gait disturbanceHP:0001288
  • Movement abnormality of the tongueHP:0000182
  • Open mouthHP:0000194
  • Sunken cheeksHP:0009938
  • TorticollisHP:0000473

Occasional (29-5%)(8)

  • BlepharospasmHP:0000643
  • DementiaHP:0000726
  • DysdiadochokinesisHP:0002075
  • DysphagiaHP:0002015
  • Involuntary movementsHP:0004305
  • KyphoscoliosisHP:0002751
  • Respiratory distressHP:0002098
  • Upper limb postural tremorHP:0007351