OnlineIMD

Mitochondrial and cytoplasmic glycyl-tRNA synthetase deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • GARS1 / glycyl-tRNA synthetase 1
      • 7p14.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Glycyl-tRNA synthetase
  • Disease group(s)
    • 16.4.2    Disorders of non-mitochondrial aminoacyl-tRNA synthetases
  • Child entries
    • Infantile spinal muscular atrophy, James type
    • Charcot-Marie-Tooth disease type 2D
    • Distal hereditary motor neuropathy type 5A