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Spondyloepiphyseal dysplasia tarda, Kohn type

ORPHA:163665 · Disease · Disorder

HPO 表現型（共 11 項）

Frequent (79-30%)(9)

  • Abnormal ilium morphologyHP:0002867
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the ankleHP:0003028
  • Abnormality of the kneeHP:0002815
  • Bilateral coxa valgaHP:0010665
  • Disproportionate short-trunk short statureHP:0003521
  • PlatyspondylyHP:0000926
  • Restricted large joint movementHP:0005193
  • Short statureHP:0004322

Occasional (29-5%)(2)

  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342