mental retardation, X-linked, syndromic, Turner type
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.