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Horizontal gaze palsy with progressive scoliosis

ORPHA:2744 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(3)

  • Horizontal supranuclear gaze palsyHP:0007817
  • KyphosisHP:0002808
  • ScoliosisHP:0002650

Frequent (79-30%)(11)

  • Cognitive impairmentHP:0100543
  • Delayed skeletal maturationHP:0002750
  • Duane anomalyHP:0009921
  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252
  • MyopathyHP:0003198
  • NystagmusHP:0000639
  • Proportionate short statureHP:0003508
  • Short neckHP:0000470
  • StrabismusHP:0000486
  • Visual impairmentHP:0000505

Occasional (29-5%)(2)

  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407