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Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

ORPHA:329314 · Disease · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(8)

  • Adult onset sensorineural hearing impairmentHP:0008615
  • Bilateral ptosisHP:0001488
  • DysphagiaHP:0002015
  • Limb-girdle muscle atrophyHP:0003797
  • Limb-girdle muscle weaknessHP:0003325
  • Lower limb muscle weaknessHP:0007340
  • Progressive external ophthalmoplegiaHP:0000590
  • Sensory axonal neuropathyHP:0003390

Occasional (29-5%)(13)

  • AstheniaHP:0025406
  • AtaxiaHP:0001251
  • CataractHP:0000518
  • Cognitive impairmentHP:0100543
  • DementiaHP:0000726
  • DepressionHP:0000716
  • DysphoniaHP:0001618
  • Muscle spasmHP:0003394
  • MyalgiaHP:0003326
  • Optic atrophyHP:0000648
  • Pelvic girdle muscle weaknessHP:0003749
  • StrabismusHP:0000486
  • Viral infection-induced rhabdomyolysisHP:0003558