RS113994096 POLG
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What This Variant Does
"23andMe name: i5006729 [OMIM:?]
Associated Conditions
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial disease
Global developmental delay
Tip-toe gait
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Abnormality of the nervous system
Inborn genetic diseases
Hereditary spastic paraplegia
Hypertrophic cardiomyopathy
Other Variants in POLG