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Czech dysplasia, metatarsal type

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Description

Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

8

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Genes

External Links

  • OMIM

    609162

  • Orphanet

    137678

  • HPO
  • Medgen

    C1836683

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