NIPBL and Cornelia de Lange syndrome: Direct sequencing of the 46 coding exons of the Nippled-B-like protein (NIPBL) gene was performed at the age of 2 weeks to exclude Cornelia de Lange syndrome (OMIM 122470), revealing no variants that could be categorized as pathogenic, likely pathogenic, or uncertain significance (VUS) according to the 2015 ACMG and 2018 ACMG guidelines [16,17].