mitochondrial DNA depletion syndrome 7 (encephalomyopathic with or without methylmalonic aciduria)
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
mitochondria
|
| gptkbp:alternativeName |
MTDPS7
mitochondrial DNA depletion syndrome type 7 |
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial DNA depletion syndrome 7 (encephalomyopathic with or without methylmalonic aciduria)
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
FBXL4 gene
|
| gptkbp:OMIM |
615471
|
| gptkbp:symptom |
gptkb:encephalopathy
muscle weakness methylmalonic aciduria |
| gptkbp:bfsParent |
gptkb:SLC25A26
|
| gptkbp:bfsLayer |
8
|