Mitochondrial isoleucyl-tRNA synthetase deficiency

Synonym(s)
- Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- IARS2 / isoleucyl-tRNA synthetase 2, mitochondrial
  1q41
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Isoleucyl-tRNA synthetase 2, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases