Families

SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) are caused by disease-causing variant in the SLC6A1 gene.
SLC6A1-NDD is characterized by mild-to-severe developmental delay, low muscle tone, epilepsy, movement disorders, and behavioural/psychiatric disorders. Language skills, particularly spoken language, are often more significantly affected than motor development.

SLC6A1-NDD is a rare disorder. Most often the disease-causing SLC6A1 variant has arisen in the affected individual only and less often the variant is inherited from a parent. The parent might also be affected but to a lesser degree.