Human genes for mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome 13 [DOID:0080131]
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.
Synonyms: mitochondrial DNA depletion syndrome 13, DOID:0080131, FBXL4 deficiency, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome 13, encephalomyopathic type ...