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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

RRM2B RRM2B


COMMON
GENES
RRM2B



Citations in the biomedical literature:


Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
RRM2B
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy



Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Synonym(s):
- mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Synonym(s):
- Adult-onset CPEO with mitochondrial myopathy

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.