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Kleefstra syndrome

ORPHA:261494 · Malformation syndrome · Disorder

HPO 表現型（共 67 項）

Very frequent (99-80%)(12)

  • Anteverted naresHP:0000463
  • Coarse facial featuresHP:0000280
  • Delayed speech and language developmentHP:0000750
  • Everted lower lip vermilionHP:0000232
  • Exaggerated cupid's bowHP:0002263
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Malar flatteningHP:0000272
  • Severe intellectual disabilityHP:0010864
  • Short noseHP:0003196
  • Tented upper lip vermilionHP:0010804

Frequent (79-30%)(22)

  • Aggressive behaviorHP:0000718
  • ArrhythmiaHP:0011675
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Bicuspid aortic valveHP:0001647
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Chronic otitis mediaHP:0000389
  • Coarctation of aortaHP:0001680
  • ConstipationHP:0002019
  • Hearing impairmentHP:0000365
  • Highly arched eyebrowHP:0002553
  • MacroglossiaHP:0000158
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • ObesityHP:0001513
  • Self-mutilationHP:0000742
  • Sleep disturbanceHP:0002360
  • SynophrysHP:0000664
  • Thickened helicesHP:0000391
  • Upslanted palpebral fissureHP:0000582
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(33)

  • Advanced eruption of teethHP:0006288
  • Agenesis of corpus callosumHP:0001274
  • Bowel incontinenceHP:0002607
  • Cerebral cortical atrophyHP:0002120
  • CryptorchidismHP:0000028
  • Delayed eruption of teethHP:0000684
  • Developmental regressionHP:0002376
  • Downturned corners of mouthHP:0002714
  • DyspneaHP:0002094
  • Facial asymmetryHP:0000324
  • Gastroesophageal refluxHP:0002020
  • HerniaHP:0100790
  • HydronephrosisHP:0000126
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • Limitation of joint mobilityHP:0001376
  • MicropenisHP:0000054
  • Motor stereotypyHP:0000733
  • Pulmonary artery stenosisHP:0004415
  • Pyloric stenosisHP:0002021
  • Recurrent respiratory infectionsHP:0002205
  • Renal cystHP:0000107
  • Renal insufficiencyHP:0000083
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Short statureHP:0004322
  • Supernumerary nippleHP:0002558
  • Talipes equinovarusHP:0001762
  • Tetralogy of FallotHP:0001636
  • TracheomalaciaHP:0002779
  • VentriculomegalyHP:0002119
  • Vesicoureteral refluxHP:0000076