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Results 1 - 1 of 1 for Spondyloepiphyseal dysplasia congenita
  1. COL2A1 gene 
    ... the COL2A1 gene have been found to cause spondyloepiphyseal dysplasia (SED) congenita, a disorder of bone development that causes short ... signs and symptoms seen in people with SED congenita. More About This Health Condition ... spondyloepiphyseal dysplasia (SED) with metatarsal shortening, a condition that affects ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics