Mitochondrial cysteinyl-tRNA synthetase deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 27
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CARS2 / Cysteinyl-tRNA Synthetase 2
  13q34
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cysteinyl-tRNA synthetase 2, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases