mental retardation, X-linked, syndromic, Christianson type

mental retardation, X-linked, syndromic, Christianson type

An X-linked mental retardation syndrome (OMIM:300243) characterised by microcephaly, impaired ocular movement, severe developmental delay, developmental regression, hypotonia, abnormal movements and early-onset seizures of different types.

Molecular pathology
Caused by defects of SLC9A6, which encodes a Na+/H+ exchanger.
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