|OBO ID: DOID:0080131|
|Term Name:||mitochondrial DNA depletion syndrome 13||Search 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. (5)|
|Ontology:||Human Disease (DOID:0080131)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 13 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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