KARS1 and microcephaly: Mutations in KARS have been so far associated with various phenotypes: autosomal recessive CMT 38, nonsyndromic hearing loss 36, childhood‐onset visual impairment with progressive microcephaly with combined mitochondrial respiratory chain defect 68, and a severe cardiomyopathy associated with myopathy, intellectual disability and lactic acidosis 69, and recently with early‐onset, profound sensorineural hearing loss and leukoencephalopathy 70, making clear genotype–phenotype correlations difficult for KARS.