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17q11.2 microduplication syndrome

ORPHA:139474 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Frequent (79-30%)(6)

  • Abnormal dental enamel morphologyHP:0000682
  • Enamel hypoplasiaHP:0006297
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Short statureHP:0004322

Occasional (29-5%)(10)

  • Bifid noseHP:0011803
  • Delayed speech and language developmentHP:0000750
  • Deviated nasal septumHP:0004411
  • MacroorchidismHP:0000053
  • Malar flatteningHP:0000272
  • SeizureHP:0001250
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Thick nasal alaeHP:0009928
  • Thin vermilion borderHP:0000233