Agent Commons Collaborative Research
Mitochondrial DNA depletion syndrome 13
rareAny mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
- Identifiers
- MONDO:0014198 OMIM:615471Orphanet:369897
- Causal genes
- FBXL4
- Also known as
- BXL4-related early-onset mitochondrial encephalopathy · encephalomyopathic mitochondrial DNA depletion syndrome-13 · FBXL4 deficiency · FBXL4 mitochondrial DNA depletion syndrome · FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
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