Valyl-tRNA synthetase 1 deficiency

Synonym(s)
- Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- VARS1 / Valyl-tRNA Synthetase 1
  6p21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Valyl-tRNA synthetase, cytoplasmic
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases