A broader phenotypic spectrum was observed in this group of patients, and the most disruptive biallelic WNT10A mutations (in patients with homozygous or compound heterozygous mutations) were associated with Schöpf-Schulz-Passarge syndrome (variants c.18_43del26/p.Arg7Alafs*28, c.321C > A/p.Cys107* and c.1131C > A/p.Cys377*). The gene discussed is WNT10A; the disease is Schöpf-Schulz-Passarge syndrome.