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Marcus-Gunn syndrome

ORPHA:91412 · Disease · Disorder

HPO 表現型（共 21 項）

Obligate (100%)(1)

  • Marcus Gunn jaw winking synkinesisHP:0025186

Frequent (79-30%)(5)

  • Abnormal fifth cranial nerve morphologyHP:0010824
  • AmblyopiaHP:0000646
  • HypotropiaHP:0025584
  • StrabismusHP:0000486
  • Unilateral ptosisHP:0007687

Occasional (29-5%)(5)

  • AnisometropiaHP:0012803
  • Double elevator palsyHP:0020041
  • Neurodevelopmental delayHP:0012758
  • Postnatal growth retardationHP:0008897
  • Superior rectus muscle underactionHP:0031747

Very rare (<4-1%)(10)

  • Abnormal ear morphologyHP:0031703
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the genital systemHP:0000078
  • Abnormality of the sense of smellHP:0004408
  • Choanal atresiaHP:0000453
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • ColobomaHP:0000589
  • Kidney stoneHP:0000787
  • Morning glory anomalyHP:0025514