Ontology highlight
ABSTRACT:
SUBMITTER: Ramocki MB
PROVIDER: S-EPMC2861792 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20100501 5
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected males and is associated with infantile hypotonia, severe to profound mental retardation, autism or autistic features, poor speech development, recurrent infections, epilepsy, progressive spasticity, and, in some ca ...[more]