Kennedy Tower

May 3, 2024 | onlinelibrary.wiley.com | Damien Wright |Kennedy Tower |Aisling Kenny |Sarah J. Eley

INTRODUCTION SYNGAP1-related intellectual disability (hereafter SYNGAP1-ID) is a neurodevelopmental disorder caused by pathological variation of the SYNGAP1 gene. Truncating mutations are the most commonly reported in the literature, though others including missense and microdeletions have also been described (Berryer et al., 2013).