TABLE 2.

Clinical presentations of patients with the indicated EARS2 mutations that were selected for functional analysis

Variant	Age of onset	Phenotype	Disease course	Reference
G317C/G317C (severe)	Neonate	Lactic acidosis, agenesis of corpus callosum, respiratory failure	Died at 5 days old	This study
I62F/Met1? (severe)	Neonate	Lactic acidosis, hypotonia, agenesis of corpus callosum, hepatomegaly	Died at 5 months old	Oliveira et al.17
K65E/K65E (severe)	Neonate	Lactic acidosis, hypotonia, dysgenesis of corpus callosum, hepatomegaly	Died at 3 months old	Talim et al.23
R108W/R108W (mild)	Infancy	Mild elevation of lactate, seizure, ataxia, leukoencephalopathy	Follow up at 3 years old with improvement	Taskin et al.24
G301A/G301A (mild)	Infancy	Mild elevation of lactate, hypotonia, failure to thrive, leukoencephalopathy, developmental delay	Follow up at 6 years old with improvement	Biancheri et al.2