RS121918054 POLG
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What This Variant Does
"[OMIM:?]
Associated Conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
autosomal dominant 1
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Inborn genetic diseases
Hereditary spastic paraplegia
Tip-toe gait
6 conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Other Variants in POLG