Cornelia De Lange Syndrome 1 (CDLS1)

Cornelia De Lange Syndrome 1, also known as de lange syndrome, is related to cornelia de lange syndrome 4 with or without midline brain defects and cornelia de lange syndrome 2. An important gene associated with Cornelia De Lange Syndrome 1 is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and 10q22q23 copy number variation. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, and related phenotypes are proteinuria and vesicoureteral reflux