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9q33.3q34.11 microdeletion syndrome

ORPHA:495818 · Malformation syndrome · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(15)

  • Abnormal shape of the palpebral fissureHP:0200005
  • Axial hypotoniaHP:0008936
  • Broad chinHP:0011822
  • Bulbous noseHP:0000414
  • Delayed speech and language developmentHP:0000750
  • DysphagiaHP:0002015
  • Full cheeksHP:0000293
  • Large foreheadHP:0002003
  • Motor delayHP:0001270
  • Nail dysplasiaHP:0002164
  • Patellar dislocationHP:0002999
  • Round faceHP:0000311
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(17)

  • AsthmaHP:0002099
  • AstigmatismHP:0000483
  • Atypical behaviorHP:0000708
  • Bilateral coxa valgaHP:0010665
  • ConstipationHP:0002019
  • EpistaxisHP:0000421
  • Fixed elbow flexionHP:0006471
  • Highly arched eyebrowHP:0002553
  • Inability to walkHP:0002540
  • MicrocephalyHP:0000252
  • Narrow mouthHP:0000160
  • Patellar hypoplasiaHP:0003065
  • PlagiocephalyHP:0001357
  • Prominent metopic ridgeHP:0005487
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • TelecanthusHP:0000506

Occasional (29-5%)(21)

  • Abnormal hair patternHP:0010720
  • Abnormal periventricular white matter morphologyHP:0002518
  • Abnormal pinna morphologyHP:0000377
  • Abnormality of the kidneyHP:0000077
  • BrachycephalyHP:0000248
  • Cerebellar vermis atrophyHP:0006855
  • CryptorchidismHP:0000028
  • Delayed CNS myelinationHP:0002188
  • EsophagitisHP:0100633
  • Low-set earsHP:0000369
  • MicropenisHP:0000054
  • Patellar aplasiaHP:0006443
  • Patent ductus arteriosusHP:0001643
  • Short neckHP:0000470
  • Single transverse palmar creaseHP:0000954
  • Small scrotumHP:0000046
  • Spastic tetraparesisHP:0001285
  • TelangiectasiaHP:0001009
  • Tented philtrumHP:0011825
  • Webbed neckHP:0000465
  • Wide noseHP:0000445