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Results 1 - 2 of 2 for Spondyloenchondrodysplasia with immune dysregulation
  1. Spondyloenchondrodysplasia with immune dysregulation 
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs ... syndrome Roifman–Costa syndrome SPENCDI Genetic ... National Organization for Rare Disorders (NORD) SPONDYLOENCHONDRODYSPLASIA WITH ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  2. ACP5 gene 
    ... the ACP5 gene have been found to cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). This condition is characterized by abnormalities in ...
    https://medlineplus.gov/genetics/gene/acp5 - Genetics