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ALG1-CDG

ORPHA:79327 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(4)

  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Frequent (79-30%)(13)

  • Abnormal facial shapeHP:0001999
  • Abnormality of blood and blood-forming tissuesHP:0001871
  • Abnormality of the eyeHP:0000478
  • Abnormality of the gastrointestinal tractHP:0011024
  • Abnormality of the skeletal systemHP:0000924
  • Brain imaging abnormalityHP:0410263
  • Chronic diarrheaHP:0002028
  • HypoalbuminemiaHP:0003073
  • Mild intellectual disabilityHP:0001256
  • Progressive microcephalyHP:0000253
  • ScoliosisHP:0002650
  • Severe global developmental delayHP:0011344
  • StrabismusHP:0000486

Occasional (29-5%)(16)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the kidneyHP:0000077
  • CardiomyopathyHP:0001638
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Decreased liver functionHP:0001410
  • ImmunodeficiencyHP:0002721
  • KyphosisHP:0002808
  • Limitation of joint mobilityHP:0001376
  • Nephrotic syndromeHP:0000100
  • NystagmusHP:0000639
  • Protein-losing enteropathyHP:0002243
  • Recurrent infectionsHP:0002719
  • Renal insufficiencyHP:0000083
  • Respiratory failureHP:0002878
  • SepsisHP:0100806