Disorders


 

Spondyloenchondrodysplasia with Immune Dysregulation


Synonym(s): Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia, SPENCDI

 

OMIM

GeneLocusProtein
ACP519p13.2Tartrate-resistant acid phosphatase type 5

Laboratory Test Method Prenatal Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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