OnlineIMD
Mitochondrial and cytoplasmic lysyl-tRNA synthetase deficiency
Type
Disease
External link(s)
IEMbase
Gene
KARS1
/ Lysyl-tRNA Synthetase
16q23.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Lysyl-tRNA synthetase
Disease group(s)
16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases
Child entries
Adult-onset progressive leukoencephalopathy-early-onset deafness
Recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive deafness type 89