autosomal recessive spinocerebellar ataxia 20
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
spinocerebellar ataxia |
| gptkbp:affectedGene |
COQ8A
|
| gptkbp:associatedWith |
intellectual disability
developmental delay cerebellar atrophy |
| gptkbp:firstDescribed |
2012
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive spinocerebellar ataxia 20
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locationOfGene |
chromosome 19q13.42
|
| gptkbp:OMIM |
610743
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:otherName |
SCAR20
spinocerebellar ataxia autosomal recessive type 20 |
| gptkbp:symptom |
ataxia
dysarthria dysmetria |
| gptkbp:bfsParent |
gptkb:SNX14
|
| gptkbp:bfsLayer |
8
|