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Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

ORPHA:1964 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(7)

  • Abnormal dermatoglyphicsHP:0007477
  • Bacterial endocarditisHP:0006689
  • Heart blockHP:0012722
  • HypertelorismHP:0000316
  • Irregular hyperpigmentationHP:0007400
  • Premature ventricular contractionHP:0006682
  • Tooth agenesisHP:0009804

Frequent (79-30%)(6)

  • Bilateral single transverse palmar creasesHP:0007598
  • Delayed skeletal maturationHP:0002750
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Short statureHP:0004322
  • StrabismusHP:0000486