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. (5)

References

• MESH:C567624
• MESH:C580473
• OMIM:612073

Ontology

Human Disease   ( DOID:0080124 )