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Mitochondrial myopathy-lactic acidosis-deafness syndrome

ORPHA:2597 · Disease · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(8)

  • EMG abnormalityHP:0003457
  • HyperalaninemiaHP:0003348
  • Metabolic acidosisHP:0001942
  • Mitochondrial myopathyHP:0003737
  • MyopathyHP:0003198
  • Sensorineural hearing impairmentHP:0000407
  • Skeletal muscle atrophyHP:0003202
  • Vaginal fistulaHP:0004320

Frequent (79-30%)(1)

  • SeizureHP:0001250