SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is genetic disorder caused by disease-causing variants in the SLC6A1.
Variant may be seen only in the affected individual or may be familial. Carries of the SLC6A1 variant within the same family may be affected to different degrees.
Genetic testing is recommended for the parents of an affected child to confirm their genetic status and to allow reliable recurrence risk counseling.
SLC6A1