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Deafness-craniofacial syndrome

ORPHA:3241 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(9)

  • Abnormal palate morphologyHP:0000174
  • Bifid tongueHP:0010297
  • Facial asymmetryHP:0000324
  • Frontal bossingHP:0002007
  • Sensorineural hearing impairmentHP:0000407
  • Short lingual frenulumHP:0000200
  • Temporal hypotrichosisHP:0004524
  • Underdeveloped nasal alaeHP:0000430
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(5)

  • Abnormality of the dentitionHP:0000164
  • Deeply set eyeHP:0000490
  • Patent ductus arteriosusHP:0001643
  • Short philtrumHP:0000322
  • Upslanted palpebral fissureHP:0000582