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DDOST-CDG

ORPHA:300536 · Disease · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(19)

  • Abnormal speech patternHP:0002167
  • Abnormality of the coagulation cascadeHP:0003256
  • Accelerated skeletal maturationHP:0005616
  • CNS hypomyelinationHP:0003429
  • ConstipationHP:0002019
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • EsotropiaHP:0000565
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • Generalized hypotoniaHP:0001290
  • Hepatic steatosisHP:0001397
  • Neurodevelopmental delayHP:0012758
  • Oromotor apraxiaHP:0007301
  • OsteopeniaHP:0000938
  • Recurrent ear infectionsHP:0410018
  • SeizureHP:0001250
  • Short statureHP:0004322
  • TremorHP:0001337
  • Type I transferrin isoform profileHP:0003642

Occasional (29-5%)(2)

  • Dry skinHP:0000958
  • LipodystrophyHP:0009125

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

  • Nephrotic range proteinuriaHP:0012593
  • Primary hypothyroidismHP:0000832