Variants
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Namaqualand hip dysplasia

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Description

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

6

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Genes

External Links

  • OMIM

    604864

  • Orphanet

    93279

  • HPO
  • Medgen

    C0432214

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