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Revesz syndrome

ORPHA:3088 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(2)

  • Bone marrow hypocellularityHP:0005528
  • Intracranial calcificationHP:0430048

Frequent (79-30%)(11)

  • Aplastic anemiaHP:0001915
  • Cerebellar hypoplasiaHP:0001321
  • Exudative retinopathyHP:0007898
  • Fine, reticulate skin pigmentationHP:0007617
  • Growth delayHP:0001510
  • MicrocephalyHP:0000252
  • Nail dystrophyHP:0008404
  • Neurodevelopmental delayHP:0012758
  • Oral leukoplakiaHP:0002745
  • Retinal detachmentHP:0000541
  • Sparse hairHP:0008070

Occasional (29-5%)(4)

  • AtaxiaHP:0001251
  • Dermal atrophyHP:0004334
  • Failure to thrive in infancyHP:0001531
  • SeizureHP:0001250