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DK1-CDG

ORPHA:91131 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(4)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Cardiomyocyte hypertrophyHP:0031319
  • Dilated cardiomyopathyHP:0001644
  • Type I transferrin isoform profileHP:0003642

Frequent (79-30%)(7)

  • Congestive heart failureHP:0001635
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thriveHP:0001508
  • IchthyosisHP:0008064
  • Interstitial cardiac fibrosisHP:0031329
  • Mild global developmental delayHP:0011342
  • SeizureHP:0001250

Occasional (29-5%)(21)

  • Absent speechHP:0001344
  • ArrhythmiaHP:0011675
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Delayed ability to standHP:0025335
  • Delayed ability to walkHP:0031936
  • EEG with generalized slow activityHP:0010845
  • Floppy infantHP:0008947
  • Focal-onset seizureHP:0007359
  • HypsarrhythmiaHP:0002521
  • Infantile spasmsHP:0012469
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • Multifocal epileptiform dischargesHP:0010841
  • Progressive microcephalyHP:0000253
  • Progressive muscle weaknessHP:0003323
  • Reduced eye contactHP:0000817
  • Severe muscular hypotoniaHP:0006829
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Visual impairmentHP:0000505