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Spondyloepimetaphyseal dysplasia, matrilin-3 type

ORPHA:156728 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(3)

  • Bowing of the legsHP:0002979
  • Limb undergrowthHP:0009826
  • Short statureHP:0004322

Frequent (79-30%)(4)

  • Disproportionate short-limb short statureHP:0008873
  • Limited elbow extensionHP:0001377
  • Lumbar hyperlordosisHP:0002938
  • Waddling gaitHP:0002515

Occasional (29-5%)(4)

  • Enlarged jointsHP:0003037
  • Flat faceHP:0012368
  • Pectus excavatumHP:0000767
  • Thoracic hypoplasiaHP:0005257