Mitochondrial glutamyl-tRNA synthetase deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 12
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- EARS2 / Glutamyl-tRNA Synthetase 2, Mitochondrial
  16p12.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial glutamyl-tRNA synthetase
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases