OnlineIMD
AIMP1/p43 deficiency
Synonym(s)
Hypomyelinating leukodystrophy type 3
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
AIMP1
/ Aminoacyl tRNA Synthetase Interacting Multifunctional Protein 1
4q24
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Multisynthetase complex auxiliary component p38
Disease group(s)
16.4.1 Disorders of non-mitochondrial tRNA processing