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Otofaciocervical syndrome

ORPHA:2792 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(18)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal speech patternHP:0002167
  • Anteverted naresHP:0000463
  • Conductive hearing impairmentHP:0000405
  • Depressed nasal bridgeHP:0005280
  • Down-sloping shouldersHP:0200021
  • Full cheeksHP:0000293
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • Intellectual disabilityHP:0001249
  • MacrotiaHP:0000400
  • Preauricular pitHP:0004467
  • Protruding earHP:0000411
  • Scapular wingingHP:0003691
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • Abnormal antihelix morphologyHP:0009738
  • Delayed skeletal maturationHP:0002750

Occasional (29-5%)(3)

  • Atresia of the external auditory canalHP:0000413
  • Facial asymmetryHP:0000324
  • Renal hypoplasia/aplasiaHP:0008678