RS202037973 POLG
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What This Variant Does
"CLNSIG=4
Associated Conditions
Progressive sclerosing poliodystrophy
POLG-related disorder
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive sclerosing poliodystrophy
POLG-related disorder
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
Other Variants in POLG