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Oculoauriculovertebral spectrum with radial defects

ORPHA:2549 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(7)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the inner earHP:0000359
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Facial asymmetryHP:0000324
  • Laryngeal stridorHP:0006511
  • MicrotiaHP:0008551
  • Short mandibular ramiHP:0003778

Frequent (79-30%)(13)

  • Abnormality of the middle ear ossiclesHP:0004452
  • Atresia of the external auditory canalHP:0000413
  • Atrioventricular canal defectHP:0006695
  • Cognitive impairmentHP:0100543
  • Distal urethral duplicationHP:0008706
  • EMG: myopathic abnormalitiesHP:0003458
  • Orofacial cleftHP:0000202
  • Preauricular pitHP:0004467
  • Preauricular skin tagHP:0000384
  • Renal hypoplasia/aplasiaHP:0008678
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Vesicoureteral refluxHP:0000076

Occasional (29-5%)(11)

  • Abnormality of the genital systemHP:0000078
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • Ectopic anusHP:0004397
  • Maternal diabetesHP:0009800
  • Non-midline cleft of the upper lipHP:0100335
  • Preaxial hand polydactylyHP:0001177
  • Triphalangeal thumbHP:0001199
  • Wide mouthHP:0000154