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Mosaic trisomy 12 syndrome

ORPHA:1698 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Frequent (79-30%)(6)

  • EpicanthusHP:0000286
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Low-set earsHP:0000369
  • Posteriorly rotated earsHP:0000358
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(13)

  • Abnormal heart morphologyHP:0001627
  • Broad foreheadHP:0000337
  • Depigmentation/hyperpigmentation of skinHP:0007483
  • Hearing impairmentHP:0000365
  • HerniaHP:0100790
  • HypertelorismHP:0000316
  • Linear Hyperpigmentation along Blaschko's linesHP:6000010
  • NystagmusHP:0000639
  • PolyhydramniosHP:0001561
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322