AIMP2/p38 deficiency

Synonym(s)
- Hypomyelinating leukodystrophy type 17
Type

Disease
External link(s)
- IEMbase
Gene
- AIMP2 / Aminoacyl tRNA Synthetase Interacting Multifunctional Protein 2
  7p22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Multifunctional protein ARC-p43
Disease group(s)
- 16.4.1 Disorders of non-mitochondrial tRNA processing