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16p13.11 microduplication syndrome

ORPHA:261243 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Frequent (79-30%)(6)

  • Attention deficit hyperactivity disorderHP:0007018
  • Global developmental delayHP:0001263
  • Hand polydactylyHP:0001161
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Language impairmentHP:0002463

Occasional (29-5%)(13)

  • Aggressive behaviorHP:0000718
  • ArachnodactylyHP:0001166
  • Atrial septal defectHP:0001631
  • AutismHP:0000717
  • Coarctation of aortaHP:0001680
  • CraniosynostosisHP:0001363
  • DolichocephalyHP:0000268
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • SchizophreniaHP:0100753
  • Tetralogy of FallotHP:0001636
  • Transposition of the great arteriesHP:0001669
  • Ventricular septal defectHP:0001629