Truncating variants in exons 3 and 4 have also previously been suggested to cause moderate phenotypes of Menkes disease due to translation reinitiation in exon 5, leading to a partially functional protein.30 Previous reports included frameshift variants p.Val41fsX and p.Asn137Lysfs*22; the latter manifesting at the same time as our patient, and both having less-severe phenotypes than typically.30,31 Our report supports the conclusion that truncating variants in exons 3 or 4 of ATP7A associate with a slightly delayed manifestation and progression of Menkes disease. Here, ATP7A is linked to Menkes disease.