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Oculo-palato-cerebral syndrome

ORPHA:2714 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(2)

  • AsthmaHP:0002099
  • MicrophthalmiaHP:0000568

Frequent (79-30%)(19)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Aplasia/Hypoplasia of the nailsHP:0008386
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Frontal cortical atrophyHP:0006913
  • Global developmental delayHP:0001263
  • High, narrow palateHP:0002705
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • LeukocoriaHP:0000555
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Remnants of the hyaloid vascular systemHP:0007968
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055
  • SpasticityHP:0001257
  • Thickened helicesHP:0000391

Occasional (29-5%)(3)

  • GlaucomaHP:0000501
  • Global brain atrophyHP:0002283
  • Retinal detachmentHP:0000541