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Cornelia de Lange syndrome 1

From SNPedia

Cornelia de Lange syndrome 1 (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked dominant (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre- and post-natal growth retardation, developmental, intellectual disability, and multiorgan involvement. About ~80% of patients with CdLS have an identifiable mutation in the NIPBL gene, including the 23% of cases with somatic mosaicism, and over 300 CdLS mutations have been reported.[PMID 25537356OA-icon.png]

Clinical utility gene card available: [PMID 25537356OA-icon.png]