Shah-Waardenburg syndrome
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
A homozygous mutation in the <span class="gene" id="8630503-0-29-41">endothelin-3</span> gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (<span class="disease" id="8630503-0-121-146">Shah-Waardenburg syndrome</span>).