mental retardation, X-linked, syndromic, ZDHHC9-related

mental retardation, X-linked, syndromic, ZDHHC9-related

A disorder (OMIM:300799) characterised by significantly sub-average general intellectual functioning associated with impairments in adaptative behaviour, first appearing during the developmental period. Some patients have marfanoid habitus.

Molecular pathology
Defects in ZDHHC9, which encodes a zinc finger protein, cause MRXSZ.
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