GTR Home > Conditions/Phenotypes > Christianson syndrome

Summary

Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MRSA, NHE6, SLC9A6
    Summary: solute carrier family 9 member A6

Clinical features

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