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Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(5)

  • Cerebral visual impairmentHP:0100704
  • Global developmental delayHP:0001263
  • Profound intellectual disabilityHP:0002187
  • Progressive microcephalyHP:0000253
  • SeizureHP:0001250

Frequent (79-30%)(3)

  • Decreased body weightHP:0004325
  • Recurrent infectionsHP:0002719
  • Short statureHP:0004322

Occasional (29-5%)(14)

  • B-cell lymphomaHP:0012191
  • Brain atrophyHP:0012444
  • BronchiectasisHP:0002110
  • Combined immunodeficiencyHP:0005387
  • Decreased total CD4+ T cell proportionHP:0032218
  • Delayed pubertyHP:0000823
  • Failure to thrive in infancyHP:0001531
  • Hypoplastic optic chiasmHP:0034311
  • HypotoniaHP:0001252
  • LymphomaHP:0002665
  • Metopic synostosisHP:0011330
  • Optic atrophyHP:0000648
  • Skeletal muscle atrophyHP:0003202
  • Thin corpus callosumHP:0033725