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Sagliker syndrome

ORPHA:300493 · Particular clinical situation in a disease or syndrome · Disorder

HPO 表現型(共 13 項)

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the dentitionHP:0000164
  • Elevated circulating parathyroid hormone levelHP:0003165
  • Short statureHP:0004322

Frequent (79-30%)(4)

  • Abnormality of the lower limbHP:0002814
  • DepressionHP:0000716
  • High-frequency hearing impairmentHP:0005101
  • Waddling gaitHP:0002515

Occasional (29-5%)(5)

  • Abnormal finger morphologyHP:0001167
  • AnxietyHP:0000739
  • ArthralgiaHP:0002829
  • Frontal bossingHP:0002007
  • Neoplasm of the oral cavityHP:0100649