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Deafness with labyrinthine aplasia, microtia, and microdontia

ORPHA:90024 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(8)

  • Abnormal cranial nerve morphologyHP:0001291
  • Aplasia of the inner earHP:0011372
  • Conical toothHP:0000698
  • Hearing impairmentHP:0000365
  • MicrodontiaHP:0000691
  • MicrotiaHP:0008551
  • Sensorineural hearing impairmentHP:0000407
  • Widely spaced teethHP:0000687

Frequent (79-30%)(6)

  • Downslanted palpebral fissuresHP:0000494
  • Long faceHP:0000276
  • MicrognathiaHP:0000347
  • Pointed chinHP:0000307
  • Underdeveloped nasal alaeHP:0000430
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(9)

  • High hypermetropiaHP:0008499
  • HypertelorismHP:0000316
  • HypodontiaHP:0000668
  • Prominent noseHP:0000448
  • Skin tagsHP:0010609
  • StrabismusHP:0000486
  • Supernumerary toothHP:0011069
  • SynophrysHP:0000664
  • Tall statureHP:0000098