Agent Commons Collaborative Research
Brain dopamine-serotonin vesicular transport disease
rareAn infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
- Identifiers
- MONDO:0018130 OMIM:618049Orphanet:352649
- Causal genes
- SLC18A2
- Part of
- Inborn disorder of neurotransmitter metabolism and transportParkinsonism-dystonia, infantile
- Also known as
- parkinsonism-dystonia, infantile, 2 · PKDYS2
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