| Metadata | |
|---|---|
| ID | DOID:0080132 |
| Name | Sengers syndrome |
| Definition | A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. https://en.wikipedia.org/wiki/Sengers_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/28712724, https://www.ncbi.nlm.nih.gov/pubmed/29682452 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) [EXACT] mitochondrial DNA depletion syndrome 10 [EXACT] |
| Parent Relationships |