R2

        For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange Syndrome. 

R2: We propose consensus criteria based on the presence of a combination of signs and features (Table 1). A diagnosis of classic CdLS can be confirmed if a score of 11 is reached, irrespective of the presence of a causative variant in a gene known to result in CdLS.

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