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2q23.1 microduplication syndrome

ORPHA:313947 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(8)

  • Abnormality of the outer earHP:0000356
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Motor delayHP:0001270
  • Poor speechHP:0002465
  • Wide mouthHP:0000154

Frequent (79-30%)(20)

  • Abnormal foot morphologyHP:0001760
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the handHP:0001155
  • Bilateral ptosisHP:0001488
  • Broad halluxHP:0010055
  • Broad-based gaitHP:0002136
  • Bulbous noseHP:0000414
  • Clinodactyly of the 5th fingerHP:0004209
  • Dental crowdingHP:0000678
  • Highly arched eyebrowHP:0002553
  • HypotelorismHP:0000601
  • Long eyelashesHP:0000527
  • Midface retrusionHP:0011800
  • Poor coordinationHP:0002370
  • Prominent nasal tipHP:0005274
  • Prominent noseHP:0000448
  • Reduced eye contactHP:0000817
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • Thin upper lip vermilionHP:0000219

Occasional (29-5%)(8)

  • AstigmatismHP:0000483
  • Cafe-au-lait spotHP:0000957
  • Gastroesophageal refluxHP:0002020
  • Low anterior hairlineHP:0000294
  • Sandal gapHP:0001852
  • Short chinHP:0000331
  • Visual impairmentHP:0000505
  • VomitingHP:0002013

Very rare (<4-1%)(1)

  • Aggressive behaviorHP:0000718