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Ring chromosome 8 syndrome

ORPHA:1450 · Malformation syndrome · Disorder

HPO 表現型(共 14 項)

Very frequent (99-80%)(14)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of the ureterHP:0000069
  • Anteverted naresHP:0000463
  • Deviation of fingerHP:0004097
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • HydronephrosisHP:0000126
  • Intellectual disabilityHP:0001249
  • Low posterior hairlineHP:0002162
  • PolyhydramniosHP:0001561
  • Round earHP:0100830
  • Short noseHP:0003196
  • Sloping foreheadHP:0000340