Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

This study follows 50 children and adults with Baker Gordon Syndrome, a rare genetic disorder, to track how the condition changes over time. Participants will undergo brain scans, EEGs, and genetic testing, and complete developmental assessments. The goal is to create better tool…

This study observes 100 people with rare genetic neurodevelopmental disorders like Baker Gordon Syndrome and Syt-1 disorder. Researchers will track symptoms, collect genetic and imaging data, and create cell models to better understand these conditions. The goal is to improve dia…