NEWLY DIAGNOSED? WELCOME, WE WERE THERE NOT LONG AGO...
Receiving a diagnosis of a HUWE1-related neurodevelopmental disorder can be difficult, but you are not alone. We believe approximately 100 individuals have a confirmed diagnosis. Understanding of the impact of changes in the HUWE1 gene is still developing and people can vary in the range and extent of symptoms they experience such as developmental delays, intellectual disability and growth issues. Each individual with HUWE1 will have their own unique profile, challenges and strengths.
Most common symptoms from latest data in the HUWE1 RARE-X Data Collection Program and previous research
Clinical considerations for each symptom
Key resources and links
Information on how to get involved with our community
With thanks to Louie's HUWE Scientific Advisor, Dr. Kristin Barañano, for her review and input on this document.