Glutaminyl-tRNA synthetase 1 deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- QARS1 / Glutaminyl-tRNA Synthetase 1
  3p21.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glutaminyl-tRNA synthetase, cytoplasmic
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases
Child entries
- Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy