Term Name:	mitochondrial DNA depletion syndrome 13
Synonyms:	FBXL4 deficiency, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome 13, encephalomyopathic type
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.
Ontology:	Human Disease [DOID:0080131]   ( DOID:0080131 )