Despite being ubiquitously expressed, mutations in these genes show an unexpected variety of phenotypes, including many neurological disorders affecting the white matter (DARS2, EARS2, MARS2, AARS2) or causing epileptic encephalopathy (CARS2, FARS2, PARS2, TARS2, VARS2), pontocerebellar hypoplasia (RARS2), or intellectual disability (RARS2, WARS2). Here, RARS2 is linked to pontocerebellar hypoplasia.