A compound pdCNV-pdSNV event was identified in Fam91, where proband 91.3 carries a 412 kb deletion of unknown origin (paternal DNA was unavailable) and a maternal DmisA in the remaining allele of PAX7, a gene labelled as having a biallelic mode of inheritance in Genomics England neurology and NDD panel. Here, PAX7 is linked to Neurodevelopmental delay.