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Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

ORPHA:480864 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(7)

  • Abnormal EKGHP:0003115
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: myopathic abnormalitiesHP:0003458
  • Global developmental delayHP:0001263
  • Increased circulating lactate concentrationHP:0002151
  • Intellectual disabilityHP:0001249
  • KetonuriaHP:0002919

Frequent (79-30%)(20)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Acute rhabdomyolysisHP:0008942
  • ArrhythmiaHP:0011675
  • AtaxiaHP:0001251
  • Compensated hypothyroidismHP:0008223
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Developmental regressionHP:0002376
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Feeding difficulties in infancyHP:0008872
  • Gastrointestinal dysmotilityHP:0002579
  • Global brain atrophyHP:0002283
  • HyperammonemiaHP:0001987
  • HypoglycemiaHP:0001943
  • IncoordinationHP:0002311
  • Involuntary movementsHP:0004305
  • Lactic acidosisHP:0003128
  • Moderate global developmental delayHP:0011343
  • Prolonged QT intervalHP:0001657
  • SeizureHP:0001250

Occasional (29-5%)(22)

  • AmblyopiaHP:0000646
  • Babinski signHP:0003487
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebral visual impairmentHP:0100704
  • ClonusHP:0002169
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Elevated circulating acylcarnitine concentrationHP:0045045
  • Focal impaired awareness seizureHP:0002384
  • Generalized myoclonic seizureHP:0002123
  • Generalized tonic seizureHP:0010818
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • Hypoglycemic seizuresHP:0002173
  • Infantile spasmsHP:0012469
  • Mild global developmental delayHP:0011342
  • Multifocal seizuresHP:0031165
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Severe global developmental delayHP:0011344
  • StrokeHP:0001297
  • Supranuclear gaze palsyHP:0000605

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

  • MicrocephalyHP:0000252
  • Sensorineural hearing impairmentHP:0000407