Three variants were located within genes previously implicated in developmental delay or intellectual disability; a missense variant (rs150861758) in SHROOM4 (NM_020717.3; c.1879 C > T; p.(Pro627Ser)), a rare missense variant (rs140976011) in ZCCHC12 (NM_173798.2; c.722 G > C; p.(Arg241Thr)) and a novel missense variant in NAA10 (NM_001256120.1; c.128 A > C; p.(Tyr43Ser)). Here, SHROOM4 is linked to Global developmental delay.