The expression studies using RT‐qPCR also showed that this variant might alter the key functions of RAP1GDS1. We propose to name this syndrome as “Alfadhel syndrome.” Our observations add to the diverse and pleiotropic group of Mendelian disorders caused by variations in the RAP1GDS1 gene and related RAC1 and RhoA pathways.5, 7. Here, RAP1GDS1 is linked to Alfadhel syndrome.