Glutamyl-prolyl-tRNA synthetase 1 deficiency

Synonym(s)
- Hypomyelinating leukodystrophy type 15
Type

Disease
External link(s)
- IEMbase
Gene
- EPRS1 / Glutamyl-Prolyl-tRNA Synthetase 1
  1q41
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glutamyl-prolyl-tRNA synthetase
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases