mental retardation, X-linked, syndromic, Turner type(redirected from mental retardation and macrocephaly syndrome)
mental retardation, X-linked, syndromic, Turner typeA clinically variable form (OMIM:300706) of mental retardation typically accompanied by macrocephaly and joint contractures.
Defects in HUWE1, which encodes E3 ubiquitin-protein ligase (which mediates ubiquitination and subsequent proteasomal degradation of target proteins) cause MRXST.
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