NIPBL and Cornelia de Lange syndrome: CdLS is classified into six types (MIM #300,590, #614,701, #300,882, #610,759, and #122,470) based on the specific genes involved in the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, BRD4 and HDAC8. Additionally, mutations in ANKRD11 genes have also been associated with CdLS [3].