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Branchiootic syndrome

ORPHA:52429 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(2)

  • Hearing impairmentHP:0000365
  • Preauricular pitHP:0004467

Frequent (79-30%)(7)

  • Abnormal middle ear morphologyHP:0008609
  • Abnormality of the inner earHP:0000359
  • Abnormality of the outer earHP:0000356
  • Atresia of the external auditory canalHP:0000413
  • Branchial fistulaHP:0009795
  • Conductive hearing impairmentHP:0000405
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(7)

  • Abnormal nasolacrimal system morphologyHP:0000614
  • Cleft palateHP:0000175
  • Facial asymmetryHP:0000324
  • Facial palsyHP:0010628
  • Lip pitHP:0100267
  • MicrognathiaHP:0000347
  • Preauricular skin tagHP:0000384