MILS (maternally inherited Leigh syndrome)
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
mitochondrial disease Leigh syndrome subtype |
| gptkbp:associatedWith |
lactic acidosis
basal ganglia lesions |
| gptkbp:causedBy |
MT-ATP6 gene mutation
mutation in mitochondrial DNA |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
MILS (maternally inherited Leigh syndrome)
|
| gptkbp:inheritance |
maternal inheritance
|
| gptkbp:namedAfter |
gptkb:Archibald_Denis_Leigh
|
| gptkbp:OMIM |
500017
|
| gptkbp:onset |
infancy
|
| gptkbp:symptom |
respiratory problems
muscle weakness developmental delay progressive neurodegeneration |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:MT-ATP6
|
| gptkbp:bfsLayer |
8
|