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Human Disease

mitochondrial DNA depletion syndrome 5

Term ID
DOID:0080124
Synonyms
  • 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. (4)
References
Ontology
Human Disease   ( DOID:0080124 )
Relationships
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Genes Involved
Zebrafish Models