Clinical Characteristics for Families

A genetic change in the GABBR2 gene (also called a mutation or a pathogenic variant) has been linked to epilepsy (including severe form of epilepsy and developmental delays) and Rett-like syndrome. In Rett syndrome, children may have different symptoms and signs, such as developmental regression followed by stagnation, unusual hand movements, small head , autonomic dysfunction(agitation, constipation, reflux, arrhythmia, breath holding or heavy breathing), and sleep disturbances.