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Vici syndrome

ORPHA:1493 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(14)

  • Abnormal retinal pigmentationHP:0007703
  • Agenesis of corpus callosumHP:0001274
  • CardiomyopathyHP:0001638
  • Cellular immunodeficiencyHP:0005374
  • Death in infancyHP:0001522
  • EEG abnormalityHP:0002353
  • Global developmental delayHP:0001263
  • Hypopigmentation of the skinHP:0001010
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • Short statureHP:0004322
  • Ureteral atresiaHP:0005999

Frequent (79-30%)(10)

  • CataractHP:0000518
  • Cerebellar hypoplasiaHP:0001321
  • Depressed nasal tipHP:0000437
  • Gray matter heterotopiaHP:0002282
  • High palateHP:0000218
  • Hypoplasia of the ponsHP:0012110
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Renal tubular acidosisHP:0001947
  • SeizureHP:0001250

Occasional (29-5%)(11)

  • Abnormal macular morphologyHP:0001103
  • Cerebral cortical atrophyHP:0002120
  • Decreased circulating IgG concentrationHP:0004315
  • Decreased circulating IgG2 concentrationHP:0008348
  • Feeding difficultiesHP:0011968
  • Feeding difficulties in infancyHP:0008872
  • HypertelorismHP:0000316
  • HypotelorismHP:0000601
  • Joint stiffnessHP:0001387
  • Sensorineural hearing impairmentHP:0000407
  • Sleep disturbanceHP:0002360