← 返回搜尋

Leigh syndrome

ORPHA:506 · Disease · Disorder

HPO 表現型（共 98 項）

Very frequent (99-80%)(7)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormality of movementHP:0100022
  • Floppy infantHP:0008947
  • Increased circulating lactate concentrationHP:0002151
  • Increased CSF lactateHP:0002490
  • Lactic acidosisHP:0003128
  • LacticaciduriaHP:0003648

Frequent (79-30%)(30)

  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • Abnormal brainstem MRI signal intensityHP:0012747
  • Abnormal dentate nucleus morphologyHP:0100321
  • Abnormal optic nerve morphologyHP:0000587
  • Abnormal thalamic MRI signal intensityHP:0012696
  • Brain imaging abnormalityHP:0410263
  • Complex organic aciduriaHP:0008336
  • Decreased activity of mitochondrial complex IHP:0011923
  • Decreased activity of mitochondrial respiratory chainHP:0008972
  • Decreased activity of the pyruvate dehydrogenase complexHP:0002928
  • Developmental regressionHP:0002376
  • Diffuse spongiform leukoencephalopathyHP:0006943
  • Elevated brain lactate level by MRSHP:0012707
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Focal T2 hyperintense basal ganglia lesionHP:0007183
  • Focal T2 hyperintense brainstem lesionHP:0012748
  • GliosisHP:0002171
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypertrichosisHP:0000998
  • Hypertrophic cardiomyopathyHP:0001639
  • Involuntary movementsHP:0004305
  • LeukodystrophyHP:0002415
  • OphthalmoplegiaHP:0000602
  • Optic atrophyHP:0000648
  • Progressive neurologic deteriorationHP:0002344
  • Sensorineural hearing impairmentHP:0000407
  • Severe viral infectionHP:0031691
  • Upper motor neuron dysfunctionHP:0002493

Occasional (29-5%)(41)

  • 3-Methylglutaconic aciduriaHP:0003535
  • Abnormal pattern of respirationHP:0002793
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Abnormality of the skeletal systemHP:0000924
  • Agenesis of corpus callosumHP:0001274
  • AnemiaHP:0001903
  • AtaxiaHP:0001251
  • AthetosisHP:0002305
  • ChoreaHP:0002072
  • ChoreoathetosisHP:0001266
  • Congestive heart failureHP:0001635
  • Decreased activity of mitochondrial complex IIIHP:0011924
  • Decreased activity of mitochondrial complex IVHP:0008347
  • Decreased circulating biotinidase concentrationHP:0410145
  • Distal muscle weaknessHP:0002460
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Ethylmalonic aciduriaHP:0003219
  • Generalized aminoaciduriaHP:0002909
  • Hepatic failureHP:0001399
  • HyperalaninemiaHP:0003348
  • Hyperkinetic movementsHP:0002487
  • HypoglycemiaHP:0001943
  • Hypoplasia of the corpus callosumHP:0002079
  • HypsarrhythmiaHP:0002521
  • KetoacidosisHP:0001993
  • Methylmalonic aciduriaHP:0012120
  • Multiple joint contracturesHP:0002828
  • Muscle weaknessHP:0001324
  • MyopathyHP:0003198
  • Neuronal loss in basal gangliaHP:0200147
  • NystagmusHP:0000639
  • Olivopontocerebellar atrophyHP:0002542
  • Peripheral neuropathyHP:0009830
  • PtosisHP:0000508
  • Respiratory failureHP:0002878
  • SeizureHP:0001250
  • Sensory axonal neuropathyHP:0003390
  • Skeletal muscle atrophyHP:0003202
  • Spastic diplegiaHP:0001264
  • SpasticityHP:0001257

Very rare (<4-1%)(20)

  • Abnormal facial shapeHP:0001999
  • AlopeciaHP:0001596
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • Decreased activity of mitochondrial complex IIHP:0008314
  • Decreased total neutrophil countHP:0001875
  • DyskinesiaHP:0100660
  • Eczematoid dermatitisHP:0000964
  • EncephalomalaciaHP:0040197
  • Frontal hirsutismHP:0011335
  • Gastrointestinal dysmotilityHP:0002579
  • High foreheadHP:0000348
  • Infantile spasmsHP:0012469
  • Intrauterine growth retardationHP:0001511
  • MacrotiaHP:0000400
  • Nephrotic syndromeHP:0000100
  • Renal tubular acidosisHP:0001947
  • Renal tubular dysfunctionHP:0000124
  • Status epilepticusHP:0002133
  • Ventricular septal defectHP:0001629