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Kleefstra syndrome due to 9q34 microdeletion

ORPHA:96147 · Etiological subtype · Subtype of disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(14)

  • Anteverted naresHP:0000463
  • AphasiaHP:0002381
  • BrachycephalyHP:0000248
  • EcholaliaHP:0010529
  • Everted lower lip vermilionHP:0000232
  • Flat occiputHP:0005469
  • Global developmental delayHP:0001263
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MutismHP:0002300
  • Short noseHP:0003196
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(15)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal testis morphologyHP:0000035
  • AutismHP:0000717
  • CryptorchidismHP:0000028
  • Downturned corners of mouthHP:0002714
  • Epileptic spasmHP:0011097
  • Generalized non-motor (absence) seizureHP:0002121
  • MacroglossiaHP:0000158
  • MicrocephalyHP:0000252
  • Midface retrusionHP:0011800
  • ObesityHP:0001513
  • Protruding tongueHP:0010808
  • SeizureHP:0001250
  • Status epilepticusHP:0002133
  • SynophrysHP:0000664

Occasional (29-5%)(26)

  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • AnxietyHP:0000739
  • Aortic regurgitationHP:0001659
  • Aortic valve stenosisHP:0001650
  • ApathyHP:0000741
  • Atypical behaviorHP:0000708
  • Cerebral cortical atrophyHP:0002120
  • Cerebral cortical hemiatrophyHP:0100308
  • Coarctation of aortaHP:0001680
  • Conotruncal defectHP:0001710
  • DepressionHP:0000716
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Femoral herniaHP:0100541
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • Hypoplasia of penisHP:0008736
  • Inguinal herniaHP:0000023
  • IrritabilityHP:0000737
  • Renal insufficiencyHP:0000083
  • Sleep disturbanceHP:0002360
  • Subcortical cerebral atrophyHP:0012157
  • Tetralogy of FallotHP:0001636
  • VentriculomegalyHP:0002119
  • Vesicoureteral refluxHP:0000076