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Mosaic trisomy 14 syndrome

ORPHA:1703 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(12)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of chromosome segregationHP:0002916
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • Intellectual disabilityHP:0001249
  • MicrognathiaHP:0000347
  • Prominent nasal bridgeHP:0000426
  • Short neckHP:0000470
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(13)

  • Anteverted naresHP:0000463
  • Bilateral single transverse palmar creasesHP:0007598
  • BlepharophimosisHP:0000581
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Ectopic anusHP:0004397
  • HypertelorismHP:0000316
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • MicrotiaHP:0008551
  • Narrow chestHP:0000774
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250

Occasional (29-5%)(5)

  • Abnormal rib morphologyHP:0000772
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Camptodactyly of fingerHP:0100490
  • Lower limb asymmetryHP:0100559
  • PtosisHP:0000508