OBO ID: DOID:0080124 |
Term Name: | mitochondrial DNA depletion syndrome 5 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080124 ) |
OTHER mitochondrial DNA depletion syndrome 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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