SLC6A3-related dopamine transporter deficiency syndrome
Findings
No curated finding names SLC6A3-related dopamine transporter deficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0700117), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC6A3HGNC:11049
- Definitive · ClinGen · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: SLC6A3-related dopamine transporter deficiency syndrome
- Also called
- Dopamine transporter deficiency syndromeDTDS