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Spondyloenchondrodysplasia
- 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 ( ...
- ... the ACP5 gene have been found to cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). This condition is characterized ...