GTR Home > Conditions/Phenotypes > Immunodeficiency 23


IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood. Laboratory studies are notable for increased serum IgE. Affected individuals also show developmental delay or cognitive impairment of varying severity (summary by Zhang et al., 2014). [from OMIM]

Available tests

7 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: AGM1, IMD23, PAGM, PGM 3, PGM3
    Summary: phosphoglucomutase 3

Clinical features


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