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Mitochondrial DNA depletion syndrome 8a
rareAny mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
- Identifiers
- MONDO:0012792 OMIM:612075Orphanet:255235
- Causal genes
- RRM2B
- Part of
- Mitochondrial DNA depletion syndrome, encephalomyopathic formMitochondrial neurogastrointestinal encephalomyopathy
- Also known as
- encephalomyopathic type with renal tubulopathy · mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) · mitochondrial DNA depletion syndrome caused by mutation in RRM2B · mitochondrial DNA depletion syndrome type 8a · mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
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