| Metadata | |
|---|---|
| ID | DOID:0080131 |
| Name | mitochondrial DNA depletion syndrome 13 |
| Definition | A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/26404457, https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/28940506, https://www.omim.org/entry/615471 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
FBXL4 deficiency [EXACT] FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome [EXACT] mitochondrial DNA depletion syndrome 13, encephalomyopathic type [EXACT] |
| Parent Relationships |