Molecular characteristics

This condition is due to missenses of RAC3, probably gain of function given the absence of reported truncating variants or CNV and the absence of similar phenotype in Rac3-/- mice. Molecular diagnosis can be achieved by exome/genome sequencing or panel testing (if RAC3 is included on the panel). Single gene sequencing can be performed if informed by clinical characteristics, it is however not recommended due to its inefficiency when the clinical hypothesis is imprecise.