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Neuropathy ataxia retinitis pigmentosa syndrome
- ... features rather than two distinct syndromes. NARP NARP syndrome Neurogenic muscle weakness, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentos Genetic Testing Registry: NARP ...
- ... of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis pigmentosa is one of the most ...
- ... and symptoms that are classified as a specific syndrome. For example, mitochondrial complex V deficiency can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ...
- ... Condition Some of the mutations that cause Leigh syndrome are also responsible for a similar, but less severe, condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). A small number of mutations in the ...
- ... and weakness in their arms and legs (peripheral neuropathy), an abnormal curvature of the ... Carbohydrate-deficient glycoprotein syndrome type Ia CDG Ia CDG1a CDGS1a Congenital disorder ...
- ... muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; and dry, scaly skin ... ClinicalTrials.gov ...
- ... MT-ATP6, have been found in people with neuropathy, ataxia, and retinitis ... syndrome (described above), deletion of mitochondrial DNA causes Pearson ...
- ... muscle coordination and difficulty with balance and movement (ataxia). They can also ... deficiency disease Congenital betalipoprotein deficiency syndrome Microsomal ...