Term Name: | NARP syndrome |
---|---|
Synonyms: | Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome, neuropathy, ataxia and retinitis pigmentosa, Neuropathy-ataxia-retinitis pigmentosa 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. |
Ontology: | Human Disease [DOID:0111273] ( DOID:0111273 ) |