Aspartyl-tRNA synthetase 1 deficiency

Synonym(s)
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DARS1 / Aspartyl-tRNA Synthetase 1
  2q21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aspartyl-tRNA synthetase, cytoplasmic
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases