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17p11.2 microduplication syndrome

ORPHA:1713 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(13)

  • Abnormality of chromosome segregationHP:0002916
  • Abnormality of the pharynxHP:0000600
  • AphasiaHP:0002381
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • DysarthriaHP:0001260
  • EcholaliaHP:0010529
  • Expressive language delayHP:0002474
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Mild intellectual disabilityHP:0001256
  • Sleep apneaHP:0010535

Frequent (79-30%)(13)

  • Abnormal cardiovascular system morphologyHP:0030680
  • AnxietyHP:0000739
  • Broad foreheadHP:0000337
  • Downslanted palpebral fissuresHP:0000494
  • EEG abnormalityHP:0002353
  • Gastroesophageal refluxHP:0002020
  • High hypermetropiaHP:0008499
  • MicrognathiaHP:0000347
  • Oral-pharyngeal dysphagiaHP:0200136
  • Poor fine motor coordinationHP:0007010
  • ScoliosisHP:0002650
  • Speech apraxiaHP:0011098
  • Triangular faceHP:0000325

Occasional (29-5%)(9)

  • Abnormal dental morphologyHP:0006482
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • MicrocephalyHP:0000252
  • Open biteHP:0010807
  • Posteriorly rotated earsHP:0000358
  • Short statureHP:0004322
  • Wide mouthHP:0000154