mitochondrial DNA depletion syndrome 13 (DOID:0080131)
Alliance: disease page
Synonyms: FBXL4 deficiency; FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome; mitochondrial DNA depletion syndrome 13, encephalomyopathic type
Alt IDs: OMIM:615471, ORDO:369897
Definition: A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.