Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
DYT9
Paroxysmal choreoathetosis with spasticity |
| gptkbp:diseaseCategory |
neurological disorder
|
| gptkbp:firstDescribed |
1994
|
| gptkbp:frequency |
rare
|
| gptkbp:gene |
gptkb:SLC2A1
|
| https://www.w3.org/2000/01/rdf-schema#label |
Dystonia 9
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
1p34-p32
|
| gptkbp:OMIM |
601042
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
spasticity
choreoathetosis paroxysmal dystonia |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:SLC2A1
|
| gptkbp:bfsLayer |
7
|