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.