dopamine transporter deficiency syndrome
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder |
| gptkbp:affects |
dopaminergic system
|
| gptkbp:alsoKnownAs |
infantile parkinsonism-dystonia
|
| gptkbp:diagnosedBy |
genetic testing
dopamine transporter imaging |
| gptkbp:firstDescribed |
2009
|
| gptkbp:hasOrphanetID |
ORPHA:210548
|
| https://www.w3.org/2000/01/rdf-schema#label |
dopamine transporter deficiency syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC6A3_gene
|
| gptkbp:OMIM |
613135
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hypotonia
developmental delay dystonia parkinsonism oculogyric crises |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:SLC6A3
|
| gptkbp:bfsLayer |
7
|