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Branchiogenic deafness syndrome
ORPHA:50815 · Malformation syndrome · Disorder
HPO 表現型（共 21 項）
Very frequent (99-80%)(18)
- Abnormal pinna morphologyHP:0000377
- Abnormality of the middle ear ossiclesHP:0004452
- Aplasia/Hypoplasia of the inner earHP:0008774
- AstigmatismHP:0000483
- Atresia of the external auditory canalHP:0000413
- Branchial cystHP:0009796
- Branchial fistulaHP:0009795
- Conductive hearing impairmentHP:0000405
- Mixed hearing impairmentHP:0000410
- Osteolytic defects of the distal phalanges of the handHP:0009839
- Overfolded helixHP:0000396
- Preauricular pitHP:0004467
- Preauricular skin tagHP:0000384
- Sensorineural hearing impairmentHP:0000407
- Short distal phalanx of fingerHP:0009882
- Short statureHP:0004322
- StrabismusHP:0000486
- Underdeveloped tragusHP:0011272
Frequent (79-30%)(3)
- Cleft palateHP:0000175
- Reticulated skin pigmentationHP:0007427
- Specific learning disabilityHP:0001328