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14q11.2 microduplication syndrome

ORPHA:261229 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(2)

  • Delayed speech and language developmentHP:0000750
  • Neurodevelopmental delayHP:0012758

Frequent (79-30%)(7)

  • Aggressive behaviorHP:0000718
  • Attention deficit hyperactivity disorderHP:0007018
  • Generalized hypotoniaHP:0001290
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • ObesityHP:0001513
  • PolyphagiaHP:0002591

Occasional (29-5%)(15)

  • Acanthosis nigricansHP:0000956
  • AutismHP:0000717
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Exaggerated cupid's bowHP:0002263
  • Feeding difficulties in infancyHP:0008872
  • Highly arched eyebrowHP:0002553
  • Horizontal nystagmusHP:0000666
  • HypertelorismHP:0000316
  • HypothyroidismHP:0000821
  • MicrognathiaHP:0000347
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • Slurred speechHP:0001350
  • Wide nasal bridgeHP:0000431