mitochondrial glutamate carrier deficiency
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
mitochondrial glutamate transport
|
| gptkbp:diagnosedBy |
genetic testing
|
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial glutamate carrier deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC25A18
gptkb:SLC25A22 |
| gptkbp:OMIM |
609304
610658 |
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypotonia
Epilepsy seizures developmental delay |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:SLC25A18
|
| gptkbp:bfsLayer |
8
|