Cornelia De Lange Syndrome 2 (CDLS2)

Cornelia De Lange Syndrome 2, also known as congenital muscular hypertrophy-cerebral syndrome, is related to cornelia de lange syndrome 1 and cornelia de lange syndrome. An important gene associated with Cornelia De Lange Syndrome 2 is SMC1A (Structural Maintenance Of Chromosomes 1A), and among its related pathways/superpathways are Transport of the SLBP independent Mature mRNA and ESR-mediated signaling. Affiliated tissues include heart and brain, and related phenotypes are seizure and hypertrophic cardiomyopathy