P207: Comprehensive phenotypic spectrum of MED13L syndrome: Insights from literature and the National Brain Gene Registry

Pathogenic variants in MED13L cause neurodevelopmental disorders characterized by cognitive, motor, behavioral, and systemic features. MED13L encodes a key component of the mediator complex, which regulates transcription critical to cellular development. This study integrates data from a systematic review of published cases with five participants from the National Brain Gene Registry to expand the understanding of the phenotypic variability and clinical implications of MED13L syndrome.