mitochondrial DNA depletion syndrome 13

Summary

DOID:0080131 - mitochondrial DNA depletion syndrome 13

Disease Ontology 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.

Synonyms: FBXL4 deficiency, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome 13, encephalomyopathic type

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fbxl4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014198 - mitochondrial DNA depletion syndrome 13

MONDO:0014198 - mitochondrial DNA depletion syndrome 13

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mitochondrial DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)