H number H00658
Name Syndromic X-linked mental retardation, including:
Turner type (MRXST);
Siderius type (MRXSSD);
Cabezas type (MRXC);
Raymond type (MRXSR);
Hedera type (MRXSH);
Claes-Jences type (MRXSCJ);
Wu type (MRXSW);
Mircsof-Langouet type (MRXSML);
Bain type (MRXSB);
Borck type (MRXSBRK);
Shashi type (SMRXS);
ARX related (MRXARX);
Synapsin related (MRXSYN);
Panhypopituitarism type (MRGH)
Description X-linked mental retardation (XMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic XLMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.
Category Congenital disorder; Mental retardation