A 725Â kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2

► We report a case of a neurologic variant of WS Type 2 with a 22q13.1 deletion. ► Very few data is known regarding deletions within 22q13.1. ► The deletion includes SOX10, PLA2G6, KCNJ4 and PICK1 genes. ► We compare the clinical features of our patient to other analogous reported cases.