Mitochondrial arginyl-tRNA synthetase deficiency

Synonym(s)
- Pontocerebellar hypoplasia type 6
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- RARS2 / Arginine-tRNA Synthetase 2, Mitochondrial
  6q15
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Arginine--tRNA ligase, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases