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Isolated Dandy-Walker malformation

ORPHA:217 · Morphological anomaly · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(5)

  • Dandy-Walker malformationHP:0001305
  • HydrocephalusHP:0000238
  • MacrocephalyHP:0000256
  • PlatybasiaHP:0002691
  • Prominent occiputHP:0000269

Frequent (79-30%)(7)

  • Aplasia/Hypoplasia of the cerebellar vermisHP:0006817
  • Cerebellar hypoplasiaHP:0001321
  • Dilated fourth ventricleHP:0002198
  • Enlarged fetal cisterna magnaHP:0011427
  • Enlarged posterior fossaHP:0005445
  • Frontal bossingHP:0002007
  • Mild fetal ventriculomegalyHP:0010952

Occasional (29-5%)(6)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Cleft palateHP:0000175
  • EncephaloceleHP:0002084
  • Increased intracranial pressureHP:0002516
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270

Very rare (<4-1%)(2)

  • NystagmusHP:0000639
  • Truncal ataxiaHP:0002078