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Disease Ontology Browser
mitochondrial DNA depletion syndrome 13 (DOID:0080131)
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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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory