CDC42 and macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome: Intriguingly, the partial phenotype observed in our patients—including intellectual disability, hearing loss, facial dysmorphism, and camptodactyly—significantly overlaps with those seen in a patient with Takenouchi-Kosaki syndrome and a heterozygous c.191A>G (p.Tyr64Cys) variant in CDC42 [32].