A variant on Chromosome 16 in gene EARS2, EARS2 (glutamyl-tRNA synthetase 2, mitochondrial| glutamyl-tRNA synthetase 2, mitochondrial) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome