OBO ID: DOID:0080124
Term Name: mitochondrial DNA depletion syndrome 5 Search Ontology:
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. (5)
References:
Ontology: Human Disease   (DOID:0080124)
OTHER mitochondrial DNA depletion syndrome 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None