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mtDNA Depletion Syndrome (Hepatocerebral)

Prevalence: 1/200000

mitochondrial

Official·OMIM:251880 Official·ORPHA254902

Hepatocerebral mitochondrial DNA depletion syndrome due to DGUOK gene mutations.

Associated Genes

DGUOKDeoxyguanosine Kinase

Chromosome 2Autosomal Recessive