RS574670461 PNPT1
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Associated Conditions
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
PNPT1-related disorder
Spinocerebellar ataxia type 25
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
PNPT1-related disorder
Spinocerebellar ataxia type 25
Other Variants in PNPT1