We expected the methylation profile to fall within the BAFopathy cluster; instead, both cases revealed an episignature that was intermediate between the BAFopathy profile and the profile of blepharophimosis-impaired intellectual disability syndrome (BIS) (OMIM: 619293), an allelic disorder associated with SMARCA2, a paralog of SMARCA4 (Figure 1A). Here, SMARCA2 is linked to Blepharophimosis.