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Classic pantothenate kinase-associated neurodegeneration

ORPHA:216866 · Clinical subtype · Subtype of disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(1)

  • Gait disturbanceHP:0001288

Frequent (79-30%)(19)

  • Abnormal posturingHP:0002533
  • Abnormality of the tongueHP:0000157
  • Attention deficit hyperactivity disorderHP:0007018
  • Cognitive impairmentHP:0100543
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Eye of the tiger anomaly of globus pallidusHP:0002454
  • Frequent fallsHP:0002359
  • Generalized dystoniaHP:0007325
  • HyperreflexiaHP:0001347
  • Inability to walkHP:0002540
  • Increased susceptibility to fracturesHP:0002659
  • Iron accumulation in brainHP:0012675
  • Muscle stiffnessHP:0003552
  • Optic disc pallorHP:0000543
  • Pigmentary retinopathyHP:0000580
  • Rod-cone dystrophyHP:0000510
  • SpasticityHP:0001257
  • Tip-toe gaitHP:0030051

Occasional (29-5%)(6)

  • Aspiration pneumoniaHP:0011951
  • CoughHP:0012735
  • Global developmental delayHP:0001263
  • Mask-like faciesHP:0000298
  • OpisthotonusHP:0002179
  • Weight lossHP:0001824

Very rare (<4-1%)(2)

  • BlindnessHP:0000618
  • SeizureHP:0001250