Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:spinal_cord
brainstem white matter of the brain |
| gptkbp:diagnosedBy |
MRI
genetic testing |
| gptkbp:firstDescribed |
2003
|
| gptkbp:fullName |
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
|
| gptkbp:hasBiomarker |
elevated lactate
|
| https://www.w3.org/2000/01/rdf-schema#label |
LBSL
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:DARS2_gene
|
| gptkbp:OMIM |
611105
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
muscle weakness
spasticity ataxia developmental delay |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:DARS2
|
| gptkbp:bfsLayer |
7
|