Other three pediatric cases had short stature as a part of a developmental disorders, a homozygous pathogenic variation in ERC66 gene associated with Cockayne syndrome B [17], cerebrooculofacioskeletal syndrome 1 was identified in case 1.5.2, while the third case exhibited VUS in CUL4B gene causative of Cabezas type of X-linked syndromic mental retardation [18] and the fourth case was identified to have heterozygous VUS in AHDC1 associated with Xia–Gibbs syndrome [19]. This evidence concerns the gene AHDC1 and cerebrooculofacioskeletal syndrome 1.