classic dopamine transporter deficiency syndrome
Findings
No curated finding names classic dopamine transporter deficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0054835), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Progressive
HPO, annotations 2026-09-02
Features
22 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.
- Delayed gross motor developmentHPOHP:0002194
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypertoniaHPOHP:0001276
- 3 of 3 reported patients
- Hypomimic faceHPOHP:0000338
- 11 of 11 reported patients
- Increased CSF homovanillic acid concentrationHPOHP:0034201
- 3 of 3 reported patients · Infantile onset
- Oromandibular dystoniaHPOHP:0012048
- 11 of 11 reported patients
- BradykinesiaHPO
Show the remaining 10
- DystoniaHPOHP:0001332
- 6 of 11 reported patients · Infantile onset
- Feeding difficultiesHPOHP:0011968
- 6 of 11 reported patients
- Hyperkinetic movementsHPOHP:0002487
- 6 of 11 reported patients
- ParkinsonismHPOHP:0001300
- 6 of 11 reported patients · Infantile onset
- ChoreaHPOHP:0002072
- 5 of 11 reported patients
- DyskinesiaHPOHP:0100660
- 5 of 11 reported patients
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 · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: classic dopamine transporter deficiency syndrome
- Also called
- classic DTDSParkinsonism-dystonia, infantile, 1PKDYS1