brain dopamine-serotonin vesicular transport disease
Findings
No curated finding names brain dopamine-serotonin vesicular transport disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Definition from the Mondo Disease Ontology (MONDO:0018130), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- DysdiadochokinesisHPOHP:0002075
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 30
- Hypernasal speechHPOHP:0001611
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Hypomimic faceHPOHP:0000338
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Infantile onset
- IncoordinationHPOHP:0002311
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
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.
- SLC18A2HGNC:10935
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: brain dopamine-serotonin vesicular transport disease
- Also called
- parkinsonism-dystonia, infantile, 2PKDYS2