Brain dopamine-serotonin vesicular transport disease

Definition

An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Also known as parkinsonism-dystonia, infantile, 2, PKDYS2 — per MONDO

Also identified as

• DOID 0070490 per MONDO
• OMIM 618049 per MONDO
• Orphanet 352649 per MONDO
• SCTID 717942003 per MONDO
• UMLS C4303546 per MONDO