SLC6A3-related dopamine transporter deficiency syndrome

Definition

A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.

Also known as Dopamine transporter deficiency syndrome, DTDS — per MONDO

Also identified as

• DOID 0070487 per MONDO