GTR Home > Conditions/Phenotypes > Mental retardation, X-linked, syndromic 13

Summary

The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked mental retardation with spasticity and other variable features, described here, and Lubs X-linked mental retardation syndrome (MRXSL; 300260). Males with RTT-associated MECP2 mutations have neonatal severe encephalopathy that is usually lethal (300673) (Moog et al., 2003; Villard, 2007). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT, MECP2
    Summary: methyl-CpG binding protein 2

Clinical features

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