The draft conceptual model of SLC6A1-NDD will likely be very similar to that of many other neurodevelopmental disorders, such as Angelman syndrome (Willgoss et al., 2020) and STXBP1-Related Disorder (Sullivan et al., 2022), with only a few distinguishing domains, such as the presence of cognitive regression, and the idiosyncratic hand use described by KOLs as the first noticeable symptom of the disorder. Here, STXBP1 is linked to neurodevelopmental disorder.