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Autosomal dominant otospondylomegaepiphyseal dysplasia

ORPHA:166100 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(5)

  • ArthralgiaHP:0002829
  • Cleft palateHP:0000175
  • Long philtrumHP:0000343
  • Malar flatteningHP:0000272
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(3)

  • GlossoptosisHP:0000162
  • MicrognathiaHP:0000347
  • OsteoarthritisHP:0002758

Occasional (29-5%)(4)

  • Abnormal metacarpal morphologyHP:0005916
  • ExostosesHP:0100777
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767