Leukodystrophy, Hypomyelinating, 9 (HLD9)

Leukodystrophy, Hypomyelinating, 9, also known as hypomyelinating leukodystrophy 9, is related to leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism and cerebrooculofacioskeletal syndrome 2, and has symptoms including ataxia and action tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 9 is RARS1 (Arginyl-TRNA Synthetase 1), and among its related pathways/superpathways are Translation factors and tRNA Aminoacylation. Affiliated tissues include brain and eye, and related phenotypes are hyperreflexia and nystagmus