The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). This will be performed by acquiring baseline measurements and developing effective outcome measures and diagnostic tools for the disorder, to prepare the healthcare system for future clinical trials.
Genetically confirmed diagnosis of Baker Gordon syndrome.
0-99 years
Ability to send medical records and diagnostic test results.
Ability to complete tests and questionnaires.
>18 years.
Legal caregiver of the patient diagnosed with a Baker Gordon Syndrome.
Willingness to follow study procedures, as assessed by the research team.
Willingness to sign the consent form.