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Non-distal duplication 10q syndrome

ORPHA:1695 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(15)

  • Abnormality of chromosome segregationHP:0002916
  • BlepharophimosisHP:0000581
  • Cognitive impairmentHP:0100543
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Everted lower lip vermilionHP:0000232
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • Joint hypermobilityHP:0001382
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Short noseHP:0003196
  • Short statureHP:0004322

Frequent (79-30%)(7)

  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • BrachycephalyHP:0000248
  • Convex nasal ridgeHP:0000444
  • CryptorchidismHP:0000028
  • High palateHP:0000218
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650

Occasional (29-5%)(2)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the urinary systemHP:0000079