Alanyl-tRNA synthetase 1 deficiency

Synonym(s)
- Early infantile epileptic encephalopathy type 29 (recessive)
Type

Disease
External link(s)
- IEMbase
Gene
- AARS1 / alanyl-tRNA synthetase 1
  16q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Alanyl-tRNA synthetase, cytoplasmic
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases
Child entries
- Axonal Charcot-Marie-Tooth disease type 2N