Patients with large 10qter deletions or whole gene deletions covering EBF3 shared main clinical characteristics with EBF3-related NDD, such as DD and/or ID, hypotonia, strabismus, and triangular face (10, 12, 26–30), which supported haploinsufficiency as one of the possible pathogenic mechanisms of the EBF3 mutations. The gene discussed is EBF3; the disease is Strabismus.