Human genes for NARP syndrome
NARP syndrome [DOID:0111273]
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.
Synonyms: NARP syndrome, DOID:0111273, NARP disease, NARP disorder, NARP syndromes ...