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Isolated complex I deficiency

ORPHA:2609 · Disease · Disorder

HPO 表現型（共 37 項）

Obligate (100%)(1)

  • Decreased activity of mitochondrial complex IHP:0011923

Very frequent (99-80%)(31)

  • Abnormal mitochondria in muscle tissueHP:0008316
  • AtaxiaHP:0001251
  • EncephalopathyHP:0001298
  • Failure to thriveHP:0001508
  • Focal T2 hyperintense brainstem lesionHP:0012748
  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • Hypertrophic cardiomyopathyHP:0001639
  • HypoglycemiaHP:0001943
  • HypotoniaHP:0001252
  • Increased circulating pyruvate concentrationHP:0003542
  • Increased CSF lactateHP:0002490
  • Intrauterine growth retardationHP:0001511
  • Lactic acidosisHP:0003128
  • LethargyHP:0001254
  • LeukodystrophyHP:0002415
  • LeukoencephalopathyHP:0002352
  • Mitochondrial myopathyHP:0003737
  • Muscle weaknessHP:0001324
  • NystagmusHP:0000639
  • Optic disc pallorHP:0000543
  • Optic neuropathyHP:0001138
  • Paroxysmal involuntary eye movementsHP:0007704
  • Poor head controlHP:0002421
  • Proximal tubulopathyHP:0000114
  • PtosisHP:0000508
  • Reduced eye contactHP:0000817
  • Respiratory insufficiencyHP:0002093
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486
  • VomitingHP:0002013

Occasional (29-5%)(5)

  • BlindnessHP:0000618
  • Diabetes mellitusHP:0000819
  • Feeding difficultiesHP:0011968
  • Fetal distressHP:0025116
  • MicrocephalyHP:0000252