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Spondylo-ocular syndrome

ORPHA:85194 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(11)

  • Abnormal eyebrow morphologyHP:0000534
  • Abnormal intervertebral disk morphologyHP:0005108
  • Disproportionate short-trunk short statureHP:0003521
  • HypertelorismHP:0000316
  • Iris hypopigmentationHP:0007730
  • OsteoporosisHP:0000939
  • PlatyspondylyHP:0000926
  • Retinal detachmentHP:0000541
  • Short neckHP:0000470
  • Thoracic kyphosisHP:0002942
  • Visual lossHP:0000572

Frequent (79-30%)(6)

  • Aplasia/Hypoplasia of the lensHP:0008063
  • CataractHP:0000518
  • Facial hypotoniaHP:0000297
  • MicrophthalmiaHP:0000568
  • Pes planusHP:0001763
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(14)

  • Abnormal antihelix morphologyHP:0009738
  • Hyperextensible skinHP:0000974
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • Low posterior hairlineHP:0002162
  • Low-set earsHP:0000369
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Preauricular pitHP:0004467
  • Short statureHP:0004322
  • Thickened helicesHP:0000391
  • Thin vermilion borderHP:0000233
  • Webbed neckHP:0000465