Mitochondrial aspartyl-tRNA synthetase deficiency

Synonym(s)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DARS2 / Aspartyl-tRNA Synthetase 2, Mitochondrial
  1q25.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aspartyl-tRNA synthetase 2, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases