Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders …

16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+184 more

~Estimated

~$10 – $1,125

Simons SearchlightNCT01238250

STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study

The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for cl…

Genetic DiseaseSTXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual Disability

~Estimated

~$10 – $750

Children's Hospital of PhiladelphiaNCT06555965