The heterozygous mutation in COG4 causes a rare skeletal dysplasia, Saul-Wilson syndrome, which is characterized by a short stature, prominent forehead, prominent eyes, a narrow nasal bridge, micrognathia, clubfoot, brachydactyly, short distal phalanges of fingers, irregular end plates of vertebral bodies, hypoplasia of the odontoid process, and metaphyseal flaring in the long bones (Table 5; Saul and Wilson, 1990; Ferreira et al., 2018). The gene discussed is COG4; the disease is microcephalic osteodysplastic dysplasia, Saul-Wilson type.