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Atypical pantothenate kinase-associated neurodegeneration

ORPHA:216873 · Clinical subtype · Subtype of disorder

HPO 表現型（共 30 項）

Frequent (79-30%)(13)

  • DepressionHP:0000716
  • DysarthriaHP:0001260
  • Emotional labilityHP:0000712
  • Focal dystoniaHP:0004373
  • HyperreflexiaHP:0001347
  • ImpulsivityHP:0100710
  • IrritabilityHP:0000737
  • Limb dystoniaHP:0002451
  • ParkinsonismHP:0001300
  • RigidityHP:0002063
  • SpasticityHP:0001257
  • Upper motor neuron dysfunctionHP:0002493
  • Violent behaviorHP:0008760

Occasional (29-5%)(10)

  • Abnormal pyramidal signHP:0007256
  • Abnormal speech patternHP:0002167
  • ChoreaHP:0002072
  • Cognitive impairmentHP:0100543
  • Compulsive behaviorsHP:0000722
  • DysphagiaHP:0002015
  • Gait disturbanceHP:0001288
  • InertiaHP:0030216
  • Oromandibular dystoniaHP:0012048
  • TremorHP:0001337

Very rare (<4-1%)(7)

  • BlindnessHP:0000618
  • ClumsinessHP:0002312
  • Frequent fallsHP:0002359
  • Optic atrophyHP:0000648
  • PsychosisHP:0000709
  • RetinopathyHP:0000488
  • Tongue atrophyHP:0012473