In fact, in 53 of the 59 specimens analyzed (28/34 SNVs; 25/25 CNVs), the methylation pattern obtained correctly matched the established EpiSign profile, identifying the correct episignatures that were gene/CNV-specific, protein domain-specific (e.g., ADNP central nonsense variants in Helsmoortel-Van der Aa syndrome) or protein complex-specific (e.g., pertaining to the BAFopathies, Cornelia De Lange syndrome [CdLS]), or Kabuki syndrome) (Table 1). The gene discussed is ADNP; the disease is Cornelia de Lange syndrome.