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Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:52055 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(16)

  • Abnormal pinna morphologyHP:0000377
  • Agenesis of corpus callosumHP:0001274
  • Cupped earHP:0000378
  • Downslanted palpebral fissuresHP:0000494
  • Hearing impairmentHP:0000365
  • High foreheadHP:0000348
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • NystagmusHP:0000639
  • Pectus excavatumHP:0000767
  • RetrognathiaHP:0000278
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Short neckHP:0000470
  • Short statureHP:0004322

Frequent (79-30%)(8)

  • Choanal atresiaHP:0000453
  • Cleft palateHP:0000175
  • High palateHP:0000218
  • Iris colobomaHP:0000612
  • Optic disc colobomaHP:0000588
  • Patent ductus arteriosusHP:0001643
  • Prominent nasal bridgeHP:0000426
  • Ventricular septal defectHP:0001629