Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
mitochondrial disease |
| gptkbp:affects |
gptkb:nervous_system
eyes |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1990
|
| gptkbp:fullName |
Neuropathy, Ataxia, and Retinitis Pigmentosa syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
NARP syndrome
|
| gptkbp:inheritance |
mitochondrial inheritance
|
| gptkbp:mutationAssociatedWith |
MT-ATP6 gene
|
| gptkbp:OMIM |
551500
|
| gptkbp:onset |
childhood or early adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Leigh_syndrome
|
| gptkbp:symptom |
muscle weakness
retinitis pigmentosa peripheral neuropathy seizures ataxia developmental delay |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:MT-ATP6
|
| gptkbp:bfsLayer |
8
|