A further report of the TIMMDC1 c.597-1340A>G variant by Naber et al.10 described compound heterozygosity for the TIMMDC1 c.597-1340A>G and c.385C>T variants, in siblings with a comparable, though more severe phenotype and death secondary to respiratory insufficiency within the first year of life10. Here, TIMMDC1 is linked to Respiratory insufficiency.