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.