RS367610201 POLG
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What This Variant Does
"CLNSIG=5
Associated Conditions
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
Hereditary spastic paraplegia
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
Other Variants in POLG