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Duane retraction syndrome

ORPHA:233 · Malformation syndrome · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(6)

  • Abnormality of eye movementHP:0000496
  • Duane anomalyHP:0009921
  • Oculomotor apraxiaHP:0000657
  • Oculomotor nerve palsyHP:0012246
  • Short palpebral fissureHP:0012745
  • StrabismusHP:0000486

Frequent (79-30%)(8)

  • Abnormal vertebral segmentation and fusionHP:0005640
  • Anteverted naresHP:0000463
  • BlepharophimosisHP:0000581
  • Deeply set eyeHP:0000490
  • Impaired ocular abductionHP:0000634
  • Impaired ocular adductionHP:0000542
  • Low posterior hairlineHP:0002162
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(48)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal pinna morphologyHP:0000377
  • Abnormal pupil morphologyHP:0000615
  • Abnormal vertebral body morphologyHP:0003312
  • Absent radiusHP:0003974
  • AmblyopiaHP:0000646
  • AniridiaHP:0000526
  • Anorectal anomalyHP:0012732
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • BlepharospasmHP:0000643
  • BrachydactylyHP:0001156
  • CamptodactylyHP:0012385
  • Central heterochromiaHP:0007818
  • Chorioretinal colobomaHP:0000567
  • Cleft palateHP:0000175
  • Compensatory head postureHP:0031705
  • Ectopic kidneyHP:0000086
  • Everted lower lip vermilionHP:0000232
  • Facial asymmetryHP:0000324
  • Global developmental delayHP:0001263
  • Gustatory lacrimationHP:0100274
  • Hearing impairmentHP:0000365
  • Hypopigmented skin patchesHP:0001053
  • Hypoplasia of the radiusHP:0002984
  • Hypoplastic iris stromaHP:0007990
  • Iris colobomaHP:0000612
  • Irregular hyperpigmentationHP:0007400
  • Marcus Gunn jaw winking synkinesisHP:0025186
  • MicrocephalyHP:0000252
  • MicrocorneaHP:0000482
  • MicrognathiaHP:0000347
  • Narrow internal auditory canalHP:0011386
  • NystagmusHP:0000639
  • Optic disc hypoplasiaHP:0007766
  • Patchy hypopigmentation of hairHP:0011365
  • PlagiocephalyHP:0001357
  • Preauricular skin tagHP:0000384
  • Preaxial hand polydactylyHP:0001177
  • PtosisHP:0000508
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Skeletal muscle atrophyHP:0003202
  • Spina bifida occultaHP:0003298
  • Stenosis of the external auditory canalHP:0000402
  • Talipes equinovarusHP:0001762
  • Triphalangeal thumbHP:0001199
  • Webbed neckHP:0000465
  • Wide nasal bridgeHP:0000431