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Cooper-Jabs syndrome

ORPHA:1488 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(12)

  • Abnormality of the middle earHP:0000370
  • Anteriorly placed anusHP:0001545
  • Anteverted naresHP:0000463
  • Atresia of the external auditory canalHP:0000413
  • BrachycephalyHP:0000248
  • Conductive hearing impairmentHP:0000405
  • Frontal bossingHP:0002007
  • Intellectual disabilityHP:0001249
  • Malar flatteningHP:0000272
  • Posteriorly rotated earsHP:0000358
  • Proximal placement of thumbHP:0009623
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(14)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal rib morphologyHP:0000772
  • Camptodactyly of fingerHP:0100490
  • Congenital diaphragmatic herniaHP:0000776
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • Missing ribsHP:0000921
  • Reduced bone mineral densityHP:0004349
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Umbilical herniaHP:0001537