Note: These pages are for MECP2 Duplication. If you are looking for Rett/MECP2 Related Disorders, please click here.
MECP2 duplication is a complex neurodevelopmental genetic condition. It is characterized by low muscle tone as infants, moderate to severe intellectual disability, difficulty developing speech, muscle spasticity that is progressive, recurring respiratory infections, and seizures. This condition is caused by a change on the X chromosome. MECP2 duplication syndrome is expressed almost exclusively in males, however rarely girls with MECP2 duplications can show some of the features.
MECP2 duplication syndrome was first described in 2005 and studies now suggest that 1% of cases of X-linked intellectual disability may be due to this syndrome
This information was last updated in May 2020.