Mitochondrial histidyl-tRNA synthetase deficiency

Synonym(s)
- Perrault syndrome type 2
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HARS2 / Histidyl-tRNA Synthetase 2
  5q31.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Histidyl-tRNA synthetase 2, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases