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Ring chromosome 6 syndrome

ORPHA:1448 · Malformation syndrome · Disorder

HPO 表現型(共 11 項)

Very frequent (99-80%)(11)

  • EpicanthusHP:0000286
  • HypertelorismHP:0000316
  • Low posterior hairlineHP:0002162
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Respiratory insufficiencyHP:0002093
  • Short distal phalanx of fingerHP:0009882
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Urogenital fistulaHP:0100589
  • Wide nasal bridgeHP:0000431