Condition: LEUKODYSTROPHY, HYPOMYELINATING, 15


rs1288116010 in EPRS1 gene and LEUKODYSTROPHY, HYPOMYELINATING, 15 PMID 29576217 2018 Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.