EPG5 and Vici syndrome: Patient 1 is a 4-year-old male with an established diagnosis of Vici syndrome due to compound heterozygosity for EPG5 variants NC_000018.10:g.45916107C > A;NM_020964.3:c.3484G > T;NP_066015.2:p.Glu1162Ter and NC_000018.10:g.45944005C > A;NM_020964.3c.1792G > T;NP_066015.2:p.Gly598Cys.