Condition: LEUKODYSTROPHY, HYPOMYELINATING, 9
rs369398935
in
RARS1
gene and
LEUKODYSTROPHY, HYPOMYELINATING, 9
PMID 24777941
2014 Mutations in RARS cause hypomyelination.
PMID 28905880
2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.