RS121918049 POLG
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What This Variant Does
"[OMIM:?]
Associated Conditions
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive sclerosing poliodystrophy
POLG-related disorder
See cases
Autosomal dominant non-syndromic intellectual disability
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
autosomal recessive 1
Progressive sclerosing poliodystrophy
Inborn genetic diseases
Sensory ataxic neuropathy
dysarthria
Other Variants in POLG