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Autosomal dominant brachyolmia

ORPHA:93304 · Malformation syndrome · Disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(5)

  • Increased vertebral heightHP:0004570
  • KyphoscoliosisHP:0002751
  • PlatyspondylyHP:0000926
  • Short statureHP:0004322
  • Short thoraxHP:0010306

Occasional (29-5%)(1)

  • Abnormal metaphysis morphologyHP:0000944