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BOR syndrome

ORPHA:107 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(4)

  • Abnormality of the inner earHP:0000359
  • Abnormality of the middle earHP:0000370
  • Hearing impairmentHP:0000365
  • Preauricular pitHP:0004467

Frequent (79-30%)(16)

  • Abnormal pinna morphologyHP:0000377
  • Abnormality of the middle ear ossiclesHP:0004452
  • Aplasia/Hypoplasia of the cochleaHP:0011395
  • Atresia of the external auditory canalHP:0000413
  • Branchial anomalyHP:0009794
  • Branchial cystHP:0009796
  • Branchial sinusHP:0100272
  • Conductive hearing impairmentHP:0000405
  • Enlarged cochlear aqueductHP:0011388
  • Enlarged vestibular aqueductHP:0011387
  • Hypoplasia of the cochleaHP:0008586
  • Lop earHP:0000394
  • Mixed hearing impairmentHP:0000410
  • Preauricular skin tagHP:0000384
  • Renal hypoplasia/aplasiaHP:0008678
  • Stenosis of the external auditory canalHP:0000402

Occasional (29-5%)(18)

  • Abnormal lacrimal duct morphologyHP:0011481
  • Abnormal lateral semicircular canal morphologyHP:0040106
  • Abnormality of the outer earHP:0000356
  • Cleft palateHP:0000175
  • Dilatation of renal calicesHP:0100581
  • Euthyroid goiterHP:0009798
  • Facial asymmetryHP:0000324
  • Facial palsyHP:0010628
  • Gustatory lacrimationHP:0100274
  • HydronephrosisHP:0000126
  • Lacrimal duct aplasiaHP:0007925
  • MicrotiaHP:0008551
  • Multicystic kidney dysplasiaHP:0000003
  • Renal insufficiencyHP:0000083
  • RetrognathiaHP:0000278
  • Sensorineural hearing impairmentHP:0000407
  • Ureteropelvic junction obstructionHP:0000074
  • Vesicoureteral refluxHP:0000076