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20p12.3 microdeletion syndrome

ORPHA:261295 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(2)

  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316

Frequent (79-30%)(8)

  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Hypoplasia of the maxillaHP:0000327
  • MacrocephalyHP:0000256
  • Malar flatteningHP:0000272
  • Narrow mouthHP:0000160
  • Short statureHP:0004322
  • Wolff-Parkinson-White syndromeHP:0001716

Occasional (29-5%)(13)

  • Atrial septal defectHP:0001631
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Depressed nasal bridgeHP:0005280
  • Full cheeksHP:0000293
  • HypotoniaHP:0001252
  • Long philtrumHP:0000343
  • MicrotiaHP:0008551
  • Pectus carinatumHP:0000768
  • SeizureHP:0001250
  • Thickened helicesHP:0000391
  • VentriculomegalyHP:0002119
  • Wide nasal bridgeHP:0000431