The registry is based at Texas Children’s Hospital’s Neurological Research Institute in Houston, Texas. This registry will allow us to communicate with you directly and conduct surveys in the future. These surveys will help us better understand RAI1-related disorders.

This registry is Health Insurance Portability and Accountability Act (HIPAA)-compliant.

There will not be any cost to you for registration or participating in future survey studies. Participation in this registry is completely voluntary and it will not affect your clinical care at our center. You can withdraw your participation from this registry at any time.

The eligibility criteria to participate includes having an individual with a mutation in the RAI1 gene (Potocki Lupski Syndrome) which can explain their clinical symptoms. You need to upload the genetic report in order for the team to validate that you or your child has a confirmed RAI1-related disorder like (Potocki Lupski Syndrome).

For questions related to the study or consenting, please email us at Walter.Williamson@bcm.edu.

You can ask questions at any time.

Please register (click the link below)