Cysteinyl-tRNA synthetase 1 deficiency

Synonym(s)
- Microcephaly, developmental delay, and brittle hair syndrome
Type

Disease
External link(s)
- IEMbase
Gene
- CARS1 / Cysteinyl-tRNA Synthetase 1
  11p15.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cysteinyl-tRNA synthetase
Disease group(s)
- 16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases