← 返回搜尋

Conductive deafness-malformed external ear syndrome

ORPHA:3216 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(3)

  • Conductive hearing impairmentHP:0000405
  • Low-set earsHP:0000369
  • MicrotiaHP:0008551

Frequent (79-30%)(5)

  • Abnormality of the middle ear ossiclesHP:0004452
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • HypogonadismHP:0000135
  • Overfolded helixHP:0000396

Occasional (29-5%)(5)

  • Abnormal pinna morphologyHP:0000377
  • Hernia of the abdominal wallHP:0004299
  • Preauricular skin tagHP:0000384
  • Sensorineural hearing impairmentHP:0000407
  • Stenosis of the external auditory canalHP:0000402