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Human Disease
mitochondrial DNA depletion syndrome 5
- Term ID
- DOID:0080124
- Synonyms
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- succinate-CoA ligase deficiency
- 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)
- References
- Ontology
- Human Disease ( DOID:0080124 )
- is a type of
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Genes Involved
Zebrafish Models