Histidyl-tRNA synthetase 1 deficiency

Synonym(s)
- Axonal Charcot-Marie-Tooth type 2W,
- Usher syndrome type 3B
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HARS1 / histidyl-tRNA synthetase 1
  5q31.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Histidyl-tRNA synthetase
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases