It can present very differently in different people and not everyone shows the same level of severity, but there are some symptoms that are commonly seen in people who have been diagnosed with SLC6A1-NDD.
About SLC6A1-NDD
What is SLC6A1-related neurodevelopmental disorder?
SLC6A1-related neurodevelopmental disorder (or SLC6A1-NDD) is a rare genetic disorder that is caused by a mutation in the SLC6A1 gene. It is usually diagnosed during early childhood.
SLC6A1-NDD affects less than 3 in 100,000 people. To date, around 500 people with SLC6A1-NDD have been reported worldwide, but because knowledge about the disorder is limited, this number may not accurately reflect the actual occurrence of this very rare disease.
Despite the growing knowledge and awareness of SLC6A1-NDD, our understanding of this disease is limited and more data is needed in order to find ways how to measure and treat the disease.
If you know anyone who has SLC6A1-NDD, you might
be interested in the SPIRIT study.