Mondo Description Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
Uniprot Description An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content.
Mondo Term and Equivalent IDs
MONDO:0014198: mitochondrial DNA depletion syndrome 13