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Kleefstra syndrome due to a point mutation

ORPHA:261652 · Etiological subtype · Subtype of disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(3)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(6)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the genital systemHP:0000078
  • Atypical behaviorHP:0000708
  • Brain imaging abnormalityHP:0410263
  • OvergrowthHP:0001548
  • Recurrent infectionsHP:0002719

Occasional (29-5%)(27)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal shape of the palpebral fissureHP:0200005
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the musculoskeletal systemHP:0033127
  • Autistic behaviorHP:0000729
  • Cerebellar hypoplasiaHP:0001321
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • Hypoplasia of the corpus callosumHP:0002079
  • Inguinal herniaHP:0000023
  • Language impairmentHP:0002463
  • Large for gestational ageHP:0001520
  • MicrocephalyHP:0000252
  • Midface retrusionHP:0011800
  • Moderate receptive language delayHP:0011351
  • Motor delayHP:0001270
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Severe expressive language delayHP:0006863
  • Short statureHP:0004322
  • Thick lower lip vermilionHP:0000179
  • Uplifted earlobeHP:0009909
  • VentriculomegalyHP:0002119
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(14)

  • Abnormality of the dentitionHP:0000164
  • Anal atresiaHP:0002023
  • BrachycephalyHP:0000248
  • Developmental cataractHP:0000519
  • GliosisHP:0002171
  • Hyperextensible skinHP:0000974
  • HypermetropiaHP:0000540
  • HypotoniaHP:0001252
  • Natal toothHP:0000695
  • PlagiocephalyHP:0001357
  • Precocious pubertyHP:0000826
  • Tapered fingerHP:0001182
  • TracheomalaciaHP:0002779
  • Umbilical herniaHP:0001537