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 )

Relationships
is a type of: mitochondrial metabolism disease