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Xq25 microduplication syndrome

ORPHA:521258 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Frequent (79-30%)(19)

  • Abnormality of the palpebral fissuresHP:0008050
  • AnxietyHP:0000739
  • Autistic behaviorHP:0000729
  • Cerebellar hypoplasiaHP:0001321
  • EpicanthusHP:0000286
  • Facial hypotoniaHP:0000297
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Highly arched eyebrowHP:0002553
  • HyperactivityHP:0000752
  • Hypoplasia of the corpus callosumHP:0002079
  • Malar flatteningHP:0000272
  • Mandibular prognathiaHP:0000303
  • Moderate intellectual disabilityHP:0002342
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • Sparse eyebrowHP:0045075
  • Speech articulation difficultiesHP:0009088
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(1)

  • Short statureHP:0004322