| Metadata | |
|---|---|
| ID | DOID:0111273 |
| Name | NARP syndrome |
| Definition | A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. https://www.ncbi.nlm.nih.gov/pubmed/2137962 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237984008 |
| Subsets |
DO_rare_slim |
| Synonyms |
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome [EXACT] neuropathy, ataxia and retinitis pigmentosa [EXACT] Neuropathy-ataxia-retinitis pigmentosa syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some muscle weakness |