SLC6A3-related dopamine transporter deficiency syndrome
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.
MONDO:0005395
movement disorder
is_a
MONDO:0100545
hereditary neurological disease
is_a
DTDS
exact
Dopamine transporter deficiency syndrome
exact