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Bohring-Opitz syndrome

ORPHA:97297 · Malformation syndrome · Disorder

HPO 表現型（共 65 項）

Very frequent (99-80%)(2)

  • Neurodevelopmental delayHP:0012758
  • Nevus flammeusHP:0001052

Frequent (79-30%)(37)

  • Agenesis of corpus callosumHP:0001274
  • ApneaHP:0002104
  • Axial hypotoniaHP:0008936
  • BradycardiaHP:0001662
  • ColobomaHP:0000589
  • Congenital contractureHP:0002803
  • Facial hypotoniaHP:0000297
  • Feeding difficulties in infancyHP:0008872
  • Fixed elbow flexionHP:0006471
  • Food intoleranceHP:0012537
  • Full cheeksHP:0000293
  • Happy demeanorHP:0040082
  • HypertrichosisHP:0000998
  • Hypoplasia of the corpus callosumHP:0002079
  • Inability to walkHP:0002540
  • Intrauterine growth retardationHP:0001511
  • Limitation of joint mobilityHP:0001376
  • Lower limb hypertoniaHP:0006895
  • MicrocephalyHP:0000252
  • Naevus flammeus of the eyelidHP:0010733
  • Obstructive sleep apneaHP:0002870
  • Optic atrophyHP:0000648
  • Profound intellectual disabilityHP:0002187
  • Prominent metopic ridgeHP:0005487
  • ProptosisHP:0000520
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • Retinal atrophyHP:0001105
  • Severe expressive language delayHP:0006863
  • Severe failure to thriveHP:0001525
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • SynophrysHP:0000664
  • TrigonocephalyHP:0000243
  • Ulnar deviation of the wristHP:0003049
  • VomitingHP:0002013

Occasional (29-5%)(20)

  • Anteverted naresHP:0000463
  • Bilateral wrist flexion contractureHP:0012453
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • Dandy-Walker malformationHP:0001305
  • Delayed myelinationHP:0012448
  • Depressed nasal bridgeHP:0005280
  • High myopiaHP:0011003
  • HypertelorismHP:0000316
  • Joint dislocationHP:0001373
  • Metacarpophalangeal joint contractureHP:0006070
  • MicrognathiaHP:0000347
  • Pectus excavatumHP:0000767
  • Posteriorly rotated earsHP:0000358
  • Prominent palatine ridgesHP:0010291
  • RetrognathiaHP:0000278
  • SeizureHP:0001250
  • Urinary retentionHP:0000016
  • VentriculomegalyHP:0002119
  • Wide nasal bridgeHP:0000431

Very rare (<4-1%)(6)

  • Abnormal cardiac septum morphologyHP:0001671
  • Annular pancreasHP:0001734
  • CardiomegalyHP:0001640
  • CholelithiasisHP:0001081
  • MedulloblastomaHP:0002885
  • NephroblastomaHP:0002667