FBXL4 mitochondrial DNA depletion syndromemitochondrial DNA depletion syndrome caused by mutation in FBXL4mitochondrial DNA depletion syndrome type 13mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomaliesBXL4-related early-onset mitochondrial encephalopathyFBXL4 deficiencyFBXL4-related encephalomyopathic mitochondrial DNA depletion syndromeMTDPS13encephalomyopathic mitochondrial DNA depletion syndrome-13mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Definition
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
Patient-Friendly Information
Comprehensive, easy-to-understand information about this condition