label: SLC6A3-related dopamine transporter deficiency syndrome
label_lc: slc6a3-related dopamine transporter deficiency syndrome
description: "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."