WDR5 and Conotruncal defect: Our study represents the characterization of multiple probands with a Mendelian disorder associated with germline variants in WDR5. It is worth mentioning that, beyond the cases described here, one additional de novo variant in WDR5 has been reported in the literature: a p.(Lys7Gln) variant, found in a child with a conotruncal heart defect with a right aortic arch.29