Isoleucyl-tRNA synthetase 1 deficiency

Synonym(s)
- Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- IARS1 / isoleyl-tRNA synthetase 1
  9q22.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Isoleucyl-tRNA synthetase, cytoplasmic
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases