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Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

ORPHA:1495 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(11)

  • Abnormality of immune system physiologyHP:0010978
  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • HypertoniaHP:0001276
  • Hypoplasia of the corpus callosumHP:0002079
  • MicrocephalyHP:0000252
  • Preauricular skin tagHP:0000384
  • Protruding earHP:0000411
  • Recurrent pneumoniaHP:0006532
  • Severe intellectual disabilityHP:0010864
  • VentriculomegalyHP:0002119

Frequent (79-30%)(6)

  • Abnormal palate morphologyHP:0000174
  • Camptodactyly of fingerHP:0100490
  • Death in infancyHP:0001522
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • TalipesHP:0001883

Occasional (29-5%)(10)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the voiceHP:0001608
  • Gastroesophageal refluxHP:0002020
  • High foreheadHP:0000348
  • Narrow mouthHP:0000160
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Short statureHP:0004322