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Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

ORPHA:70472 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(10)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Decreased activity of mitochondrial complex IVHP:0008347
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Increased circulating lactate concentrationHP:0002151
  • Increased CSF lactateHP:0002490
  • Lactic acidosisHP:0003128
  • Metabolic acidosisHP:0001942
  • Stroke-like episodeHP:0002401

Frequent (79-30%)(18)

  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • ChoreaHP:0002072
  • Cytochrome C oxidase-negative muscle fibersHP:0003688
  • Decreased liver functionHP:0001410
  • Developmental regressionHP:0002376
  • EEG with abnormally slow frequenciesHP:0011203
  • Focal T2 hyperintense basal ganglia lesionHP:0007183
  • Hepatic steatosisHP:0001397
  • Hypertrophic cardiomyopathyHP:0001639
  • Inability to walkHP:0002540
  • Multifocal epileptiform dischargesHP:0010841
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • Poor speechHP:0002465
  • Progressive neurologic deteriorationHP:0002344
  • SeizureHP:0001250
  • SpasticityHP:0001257

Occasional (29-5%)(17)

  • Abnormal cerebral morphologyHP:0002060
  • Abnormal facial shapeHP:0001999
  • Abnormal heart morphologyHP:0001627
  • Abnormal reproductive system morphologyHP:0012243
  • BrachycephalyHP:0000248
  • Central sleep apneaHP:0010536
  • Congestive heart failureHP:0001635
  • DyskinesiaHP:0100660
  • DysphagiaHP:0002015
  • Gastroesophageal refluxHP:0002020
  • Gastrostomy tube feeding in infancyHP:0011471
  • Generalized dystoniaHP:0007325
  • Generalized hypotoniaHP:0001290
  • Hypopigmentation of hairHP:0005599
  • Obstructive sleep apneaHP:0002870
  • Orofacial dyskinesiaHP:0002310
  • Respiratory failureHP:0002878