| Metadata | |
|---|---|
| ID | DOID:0080128 |
| Name | mitochondrial DNA depletion syndrome 9 |
| Definition | A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. 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/28215579, https://www.ncbi.nlm.nih.gov/pubmed/29217198 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
fatal infantile lactic acidosis [EXACT] |
| Parent Relationships |