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Congenital hydrocephalus

ORPHA:2185 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(1)

  • HydrocephalusHP:0000238

Frequent (79-30%)(15)

  • Abnormal cortical gyrationHP:0002536
  • Bulbous noseHP:0000414
  • ColpocephalyHP:0030048
  • Downslanted palpebral fissuresHP:0000494
  • Facial asymmetryHP:0000324
  • Frontal bossingHP:0002007
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • MacrocephalyHP:0000256
  • Motor delayHP:0001270
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250
  • Small cerebral cortexHP:0002472
  • StrabismusHP:0000486
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(5)

  • Abnormal heart morphologyHP:0001627
  • LissencephalyHP:0001339
  • Macular hypoplasiaHP:0001104
  • Optic atrophyHP:0000648
  • Sensorineural hearing impairmentHP:0000407