Other Names for this Disease
- Tuberous sclerosis complex
- Tuberous sclerosis 1
- The Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on Tuberous Sclerosis Complex (TSC1 and TSC2 genes), PTEN ASD/ID syndrome and Phelan-McDermid syndrome (PMS; SHANK3 gene). The Consortium has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.
For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm