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Kufor-Rakeb syndrome

ORPHA:306674 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(9)

  • Abnormal pyramidal signHP:0007256
  • Babinski signHP:0003487
  • DementiaHP:0000726
  • Lower limb hyperreflexiaHP:0002395
  • ParkinsonismHP:0001300
  • RigidityHP:0002063
  • Slow saccadic eye movementsHP:0000514
  • Supranuclear gaze palsyHP:0000605
  • Upper limb hyperreflexiaHP:0007350

Frequent (79-30%)(17)

  • Abnormal finger morphologyHP:0001167
  • Abnormality of mental functionHP:0011446
  • AnarthriaHP:0002425
  • Cerebral cortical atrophyHP:0002120
  • ConfusionHP:0001289
  • DyskinesiaHP:0100660
  • FatigueHP:0012378
  • Gait disturbanceHP:0001288
  • Hypomimic faceHP:0000338
  • Leg muscle stiffnessHP:0008969
  • LethargyHP:0001254
  • MyoclonusHP:0001336
  • Oculogyric crisisHP:0010553
  • Short attention spanHP:0000736
  • Tongue muscle weaknessHP:0000183
  • Urinary incontinenceHP:0000020
  • Visual hallucinationHP:0002367

Occasional (29-5%)(18)

  • Abnormal foot morphologyHP:0001760
  • ApathyHP:0000741
  • BlepharospasmHP:0000643
  • Bowel incontinenceHP:0002607
  • BradykinesiaHP:0002067
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Eyelid apraxiaHP:0000658
  • FeverHP:0001945
  • Generalized muscle weaknessHP:0003324
  • Hyperactive patellar reflexHP:0007083
  • HypertoniaHP:0001276
  • Lingual dystoniaHP:0031008
  • Mental deteriorationHP:0001268
  • NystagmusHP:0000639
  • Stooped postureHP:0025403
  • Upper motor neuron dysfunctionHP:0002493
  • Vertical supranuclear gaze palsyHP:0000511