This deletion is located upstream of Ednrb, one of the genes responsible for Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, characterized by hypopigmentation of hair, skin, and eyes, congenital sensorineural deafness, and Hirschsprung disease, which exhibits aganglionic megacolon [4]. Here, EDNRB is linked to Hirschsprung disease.