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Mitochondrial membrane protein-associated neurodegeneration

ORPHA:289560 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(9)

  • Atypical behaviorHP:0000708
  • Babinski signHP:0003487
  • DysarthriaHP:0001260
  • Hand tremorHP:0002378
  • Mental deteriorationHP:0001268
  • Muscle weaknessHP:0001324
  • Postural instabilityHP:0002172
  • RigidityHP:0002063
  • SpasticityHP:0001257

Frequent (79-30%)(14)

  • Abnormal globus pallidus morphologyHP:0002453
  • Abnormal substantia nigra morphologyHP:0045007
  • Bowel incontinenceHP:0002607
  • BradykinesiaHP:0002067
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Frequent fallsHP:0002359
  • Gait disturbanceHP:0001288
  • Hyperactive deep tendon reflexesHP:0006801
  • Motor axonal neuropathyHP:0007002
  • Optic atrophyHP:0000648
  • ParkinsonismHP:0001300
  • Spastic paraparesisHP:0002313
  • Urinary incontinenceHP:0000020

Occasional (29-5%)(2)

  • Abnormal saccadic eye movementsHP:0000570
  • Shuffling gaitHP:0002362

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

  • Respiratory insufficiencyHP:0002093