Biallelic pathogenic variants in the IBA57 gene have been shown to cause a spectrum of diseases, including multiple mitochondrial dysfunction syndrome type 3 (MMDS3) in 52 patients [1,10,11,12,13,14,15,16,17,18,19,20,21] as well as a SPOAN (OMIM# 609541)-like phenotype in 11 members of a single family [22]. Here, IBA57 is linked to multiple mitochondrial dysfunctions syndrome 3.