autosomal recessive cerebellar ataxia
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder |
| gptkbp:affects |
gptkb:cerebellum
|
| gptkbp:cause |
progressive loss of coordination
|
| gptkbp:diagnosedBy |
neurological examination
genetic testing |
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive cerebellar ataxia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
multiple genes
|
| gptkbp:onset |
childhood
adolescence adulthood |
| gptkbp:subclassOf |
cerebellar ataxia
|
| gptkbp:symptom |
ataxia
gait disturbance dysarthria dysmetria |
| gptkbp:treatment |
occupational therapy
physical therapy speech therapy supportive therapy |
| gptkbp:bfsParent |
gptkb:STUB1_gene
|
| gptkbp:bfsLayer |
8
|