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Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

ORPHA:3201 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(8)

  • Abnormal mandible morphologyHP:0000277
  • Abnormality of the sense of smellHP:0004408
  • ArrhythmiaHP:0011675
  • Short distal phalanx of fingerHP:0009882
  • Short footHP:0001773
  • Short statureHP:0004322
  • Short toeHP:0001831
  • Tapered fingerHP:0001182

Frequent (79-30%)(6)

  • Aplasia/Hypoplasia of the distal phalanges of the toesHP:0010185
  • High, narrow palateHP:0002705
  • HypodontiaHP:0000668
  • Joint dislocationHP:0001373
  • Low anterior hairlineHP:0000294
  • Submucous cleft hard palateHP:0000176

Occasional (29-5%)(5)

  • Camptodactyly of fingerHP:0100490
  • GlossoptosisHP:0000162
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Short 4th metacarpalHP:0010044