has material basis in germline mutation in EDNRB Waardenburg syndrome type 4A https://www.malacards.org/card/waardenburg_syndrome_type_4a Waardenburg syndrome type 4A Shah-Waardenburg syndrome OMIM:277580 Ws4 UMLS:C1848519 A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. EDNRB Waardenburg syndrome WS4A Waardenburg syndrome with Hirschsprung disease, type 4A MONDO:0010192 GARD:0015245 Waardenburg-Shah syndrome MEDGEN:341244 DOID:0110953 Waardenburg syndrome, type 4A Waardenburg syndrome caused by mutation in EDNRB Waardenburg syndrome Waardenburg-Shah syndrome