LD2H.3
Waardenburg-Shah syndrome
Síndrome de Waardenburg-Shah
CategoryDefinition
In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.
Index Terms
Waardenburg-Shah syndromeWaardenburg syndrome type 4AHirschsprung disease with pigmentary anomalyWaardenburg-Shah syndrome, neurologic variant