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COG4-CDG

ORPHA:263501 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(2)

  • Abnormal protein N-linked glycosylationHP:0012347
  • Abnormal protein O-linked glycosylationHP:0012358

Frequent (79-30%)(27)

  • Abnormality of the coagulation cascadeHP:0003256
  • Absent speechHP:0001344
  • AtaxiaHP:0001251
  • Axial hypotoniaHP:0008936
  • CirrhosisHP:0001394
  • Complex febrile seizureHP:0011172
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thrive in infancyHP:0001531
  • Feeding difficultiesHP:0011968
  • Frontotemporal cerebral atrophyHP:0006892
  • Generalized neonatal hypotoniaHP:0008935
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HepatosplenomegalyHP:0001433
  • HypercholesterolemiaHP:0003124
  • HyperreflexiaHP:0001347
  • Intermittent diarrheaHP:0002254
  • IrritabilityHP:0000737
  • Limb hypertoniaHP:0002509
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Sloping foreheadHP:0000340
  • Thick hairHP:0100874
  • ThrombocytopeniaHP:0001873
  • Type II transferrin isoform profileHP:0012301

Occasional (29-5%)(4)

  • Fatal liver failure in infancyHP:0006583
  • Hypoplasia of the corpus callosumHP:0002079
  • Neonatal sepsisHP:0040187
  • Recurrent infection of the gastrointestinal tractHP:0004798