Visualize Submit Comment

Metadata
ID	DOID:0080124
Name	mitochondrial DNA depletion syndrome 5
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. https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/24986829, https://www.ncbi.nlm.nih.gov/pubmed/26952923
Xrefs	MESH:C567624 MESH:C580473 MIM:612073
Synonyms	succinate-CoA ligase deficiency [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease