NARP syndrome (DOID:0111273)
Alliance: disease page
Synonyms: Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; neuropathy, ataxia and retinitis pigmentosa; Neuropathy-ataxia-retinitis pigmentosa syndrome
Alt IDs: OMIM:551500, MESH:C537396, ORDO:644, UMLS_CUI:C1328349
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.