The missense variant Arg517His in the MTO1 gene associated with combined oxidative phosphorylation deficiency (rs201544686, VCV000089037.4) and c.4150dup duplication in the ALMS1 gene associated with the Alstrom syndrome (rs797045228, VCV000210127.8) were reported earlier among 14 known pathogenic variants most prevalent in NWR (Barbitoff et al., 2019). Here, MTO1 is linked to Alstrom syndrome.