Mitochondrial ribonucleotide reductase small subunit deficiency

Synonym(s)
- Mitochondrial DNA depletion syndrome type 8,
- adPEO with mitochondrial DNA deletions type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- RRM2B / Ribonucleotide Reductase Regulatory Subunit M2B
  8q22.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ribonucleotide reductase regulatory subunit
Disease group(s)
- 9.1 Disorders of mitochondrial nucleotide pool maintenance