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17p13.3 microduplication syndrome

ORPHA:217385 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(8)

  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Narrow mouthHP:0000160
  • Short noseHP:0003196
  • Wide noseHP:0000445

Frequent (79-30%)(3)

  • Downslanted palpebral fissuresHP:0000494
  • Low-set earsHP:0000369
  • Short neckHP:0000470

Occasional (29-5%)(8)

  • Clinodactyly of the 5th fingerHP:0004209
  • Congenital hip dislocationHP:0001374
  • High palateHP:0000218
  • Hypoplasia of penisHP:0008736
  • Hypoplasia of the corpus callosumHP:0002079
  • Inguinal herniaHP:0000023
  • Tall statureHP:0000098
  • VentriculomegalyHP:0002119