[Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants].

Children carrying ECHS1 gene c.489G>A(p.Pro163=) compound heterozygous variants face significant diagnostic delay. Clinical awareness of this synonymous variant needs further improvement for timely diagnosis. All these cases present as Leigh syndrome, mostly mild, with no clear genotype-phenotype correlation identified.