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Mitochondrial DNA-related cardiomyopathy and hearing loss

ORPHA:1349 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(7)

  • AtaxiaHP:0001251
  • Gait disturbanceHP:0001288
  • Hypertrophic cardiomyopathyHP:0001639
  • Mild global developmental delayHP:0011342
  • Muscle weaknessHP:0001324
  • Sensorineural hearing impairmentHP:0000407
  • Slurred speechHP:0001350

Frequent (79-30%)(14)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Congestive heart failureHP:0001635
  • Dilated cardiomyopathyHP:0001644
  • DyspneaHP:0002094
  • EMG abnormalityHP:0003457
  • EncephalopathyHP:0001298
  • Exercise intoleranceHP:0003546
  • Increased circulating lactate concentrationHP:0002151
  • Increased circulating pyruvate concentrationHP:0003542
  • Lower limb painHP:0012514
  • Mental deteriorationHP:0001268
  • OphthalmoparesisHP:0000597
  • Progressive external ophthalmoplegiaHP:0000590
  • Ragged-red muscle fibersHP:0003200

Occasional (29-5%)(9)

  • Chest painHP:0100749
  • FatigueHP:0012378
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • HyperreflexiaHP:0001347
  • HypertensionHP:0000822
  • Increased adipose tissueHP:0009126
  • Multiple lipomasHP:0001012
  • MyalgiaHP:0003326
  • Peripheral neuropathyHP:0009830