Variants
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Gnathodiaphyseal dysplasia

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Description

Gnathodiaphyseal dysplasia is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

281

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Genes

External Links

  • OMIM

    166260

  • Orphanet

    53697

  • HPO
  • Medgen

    C1833736

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