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Mitochondrial DNA-associated Leigh syndrome

ORPHA:255210 · Disease · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(2)

  • Abnormality of Krebs cycle metabolismHP:0000816
  • Increased CSF lactateHP:0002490

Frequent (79-30%)(21)

  • AtaxiaHP:0001251
  • Bilateral tonic-clonic seizureHP:0002069
  • ChoreaHP:0002072
  • DyskinesiaHP:0100660
  • DystoniaHP:0001332
  • Episodic vomitingHP:0002572
  • Failure to thriveHP:0001508
  • Floppy infantHP:0008947
  • Focal T2 hyperintense basal ganglia lesionHP:0007183
  • Gait ataxiaHP:0002066
  • Generalized myoclonic seizureHP:0002123
  • HypertoniaHP:0001276
  • Increased circulating lactate concentrationHP:0002151
  • LacticaciduriaHP:0003648
  • Muscle weaknessHP:0001324
  • OphthalmoparesisHP:0000597
  • Pigmentary retinopathyHP:0000580
  • SeizureHP:0001250
  • Sensorimotor neuropathyHP:0007141
  • Severe global developmental delayHP:0011344
  • SpasticityHP:0001257

Occasional (29-5%)(28)

  • Abnormal prosodyHP:0031434
  • Abnormal renal tubule morphologyHP:0000091
  • ApneaHP:0002104
  • Bulbar signsHP:0002483
  • Cardiac conduction abnormalityHP:0031546
  • Demyelinating peripheral neuropathyHP:0007108
  • Developmental regressionHP:0002376
  • Dilated cardiomyopathyHP:0001644
  • DysphagiaHP:0002015
  • DyspneaHP:0002094
  • Episodic respiratory distressHP:0004885
  • FeverHP:0001945
  • Hepatic failureHP:0001399
  • HepatomegalyHP:0002240
  • HyperalaninemiaHP:0003348
  • HyperreflexiaHP:0001347
  • Hypertrophic cardiomyopathyHP:0001639
  • HyperventilationHP:0002883
  • HyporeflexiaHP:0001265
  • HypothermiaHP:0002045
  • Infantile spasmsHP:0012469
  • Mitochondrial myopathyHP:0003737
  • Multiple glomerular cystsHP:0100611
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Rod-cone dystrophyHP:0000510
  • Segmental peripheral demyelination/remyelinationHP:0003481
  • Sensorineural hearing impairmentHP:0000407

Very rare (<4-1%)(2)

  • Low plasma citrullineHP:0003572
  • Ragged-red muscle fibersHP:0003200