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Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015 · Malformation syndrome · Disorder

HPO 表現型(共 11 項)

Frequent (79-30%)(11)

  • Abnormal vertebral morphologyHP:0003468
  • Anteverted naresHP:0000463
  • Cleft palateHP:0000175
  • EpicanthusHP:0000286
  • Intellectual disabilityHP:0001249
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Thin upper lip vermilionHP:0000219