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GMS syndrome

ORPHA:2090 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(7)

  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Rieger anomalyHP:0000558
  • Short statureHP:0004322

Frequent (79-30%)(6)

  • Feeding difficulties in infancyHP:0008872
  • Low-set earsHP:0000369
  • Preauricular pitHP:0004467
  • Premature birthHP:0001622
  • Respiratory insufficiencyHP:0002093
  • Tricuspid regurgitationHP:0005180