mental retardation, X-linked, syndromic, Turner type

(redirected from mental retardation and macrocephaly syndrome)

mental retardation, X-linked, syndromic, Turner type

A clinically variable form (OMIM:300706) of mental retardation typically accompanied by macrocephaly and joint contractures.
 
Molecular pathology
Defects in HUWE1, which encodes E3 ubiquitin-protein ligase (which mediates ubiquitination and subsequent proteasomal degradation of target proteins) cause MRXST.
Full browser ?