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Results 1 - 2 of 2 for Spondyloenchondrodysplasia
  1. Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system ... syndrome Roifman–Costa syndrome SPENCDI Genetic Testing Registry: Spondyloenchondrodysplasia with immune dysregulation National Organization for Rare Disorders ( ...
  2. ... the ACP5 gene have been found to cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). This condition is characterized ...