GORAB and Macrocephaly: Additional recessive conditions with CL‐like phenotypes include “macrocephaly‐alopecia‐cutis laxa‐scoliosis syndrome” (MACS, MIM #613075), which is caused by mutations in the RAS and RAB interactor 2 gene (RIN2; MIM *610,222) (Aslanger et al., 2014; Basel‐Vanagaite et al., 2009), and geroderma osteodysplasticum (GO; MIM #231070) caused by mutations in the Golgi, RAB6‐interacting gene (GORAB, MIM *607,983) (Hennies et al., 2008).