Metadata | |
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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, https://www.omim.org/entry/212350 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) [EXACT] mitochondrial DNA depletion syndrome 10 [EXACT] |
Parent Relationships |