RS113994094 POLG
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What This Variant Does
"23andMe name: i5006725 [OMIM:?]
Associated Conditions
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
Mitochondrial DNA depletion syndrome 1
Progressive sclerosing poliodystrophy
POLG-related disorder
Global developmental delay
Tip-toe gait
Abnormality of the nervous system
Inborn genetic diseases
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Mitochondrial disease
Hypertrophic cardiomyopathy
Other Variants in POLG