label: Mitochondrial DNA Depletion Syndrome 13
label_lc: mitochondrial dna depletion syndrome 13
description: An autosomal recessive condition caused by mutation(s) in the FBXL4 gene, encoding F-box and leucine rich repeat protein 4. It is characterized by early-onset lactic acidosis, growth failure, encephalopathy, hypotonia, and developmental delay.