Mitochondrial prolyl-tRNA synthetase deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- PARS2 / Proline tRNA Synthetase 2, Mitochondrial
  1p32.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Proline--tRNA ligase, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases