Autosomal recessive HLD3 is associated with mutations in the aminoacyl-tRNA synthetase complex-interacting multifunctional protein 1 (aimp1) gene [10]: specifically, a frame-shift-type two-base deletion (C and A) at the 292nd position [292CA] and a nonsense-type mutation of Gln39-to-Ter [Q39X]) (OMIN ID. This evidence concerns the gene AIMP1 and hypomyelinating leukodystrophy 3.