About GPT2 Deficiency
GPT2 Deficiency is an ultra-rare genetic disorder caused by mutations in the GPT2 gene.
How We Help
We help accelerate research focused on finding a cure, while helping improve the standards of care for diagnosed individuals.
Find Support
Connect with other families affected by GPT2 Deficiency.
Join Us
Learn how to help us raise awareness and support research.
Newly Diagnosed
If your child or another loved one has just been diagnosed with GPT2 Deficiency, we want you to know that you are not alone.
Newly DiagnosedFor Clinicians
We thank you for your commitment to improving the standards of care for your patients with GPT2 Deficiency.
For CliniciansPartner Organizations
