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15q11q13 microduplication syndrome

ORPHA:238446 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(6)

  • Attention deficit hyperactivity disorderHP:0007018
  • Compulsive behaviorsHP:0000722
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(4)

  • ApraxiaHP:0002186
  • AutismHP:0000717
  • Clinodactyly of the 5th fingerHP:0004209
  • SeizureHP:0001250

Occasional (29-5%)(9)

  • Abnormal cardiovascular system morphologyHP:0030680
  • AtaxiaHP:0001251
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Finger syndactylyHP:0006101
  • Joint hypermobilityHP:0001382
  • MacrocephalyHP:0000256
  • Mask-like faciesHP:0000298
  • Short statureHP:0004322