Mitochondrial DNA Depletion Syndrome 13

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - MTDPS13