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Brachyolmia, Maroteaux type

ORPHA:93302 · Malformation syndrome · Disorder

HPO 表現型（共 8 項）

Very frequent (99-80%)(5)

  • Abnormal vertebral body morphologyHP:0003312
  • PlatyspondylyHP:0000926
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Short thoraxHP:0010306

Frequent (79-30%)(2)

  • Pectus excavatumHP:0000767
  • Wide intermamillary distanceHP:0006610

Occasional (29-5%)(1)

  • Abnormality of the falx cerebriHP:0010653