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Symptomatic form of Coffin-Lowry syndrome in female carriers

ORPHA:276630 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(2)

  • Large handsHP:0001176
  • Tapered fingerHP:0001182

Occasional (29-5%)(19)

  • Abnormal cardiovascular system morphologyHP:0030680
  • AnodontiaHP:0000674
  • Bipolar affective disorderHP:0007302
  • DepressionHP:0000716
  • Downslanted palpebral fissuresHP:0000494
  • Everted lower lip vermilionHP:0000232
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • KyphosisHP:0002808
  • ObesityHP:0001513
  • OligodontiaHP:0000677
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • PsychosisHP:0000709
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Wide noseHP:0000445