A set of 148 differentially methylated probes defining the previously reported episignature for CHARGE syndrome [22,23] was used to test and classify the DNAm profile of the subject, which was compared with two in-house cohorts composed of three patients with molecularly confirmed CHARGE syndrome (ID1: NM_017780.4:c.2839C>T, p.Arg947Ter; ID2: NM_017780.4:c.7252C>T, p.Arg2418Ter; ID3: and NM_017780.4:c.1972G>T, p.Glu658Ter) (“CHD7 training set”) and 400 controls (290 healthy subjects and 110 individuals affected with different rare disorders). Here, CHD7 is linked to CHARGE syndrome.