Seryl-tRNA synthetase 1 deficiency

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

Disease
External link(s)
- IEMbase
Gene
- SARS1 / Serine Arginine Rich Splicing Factor 1
  1p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Serine/arginine-rich splicing factor 1
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases