|OBO ID: DOID:0080124|
|Term Name:||mitochondrial DNA depletion syndrome 5||Search Ontology:|
|Definition:||A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. (5)|
|Ontology:||Human Disease (DOID:0080124)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 5 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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