RS184770596 DGUOK
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What This Variant Does
"CLNSIG=5
Associated Conditions
Inborn genetic diseases
Portal hypertension
noncirrhotic
1
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder
Mitochondrial disease
Inborn genetic diseases
Portal hypertension
noncirrhotic
1
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 4
Other Variants in DGUOK