has material basis in germline mutation in MITF Waardenburg syndrome type 2A https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a https://www.malacards.org/card/waardenburg_syndrome_type_2a_2 UMLS:C1860339 MITF Waardenburg syndrome type 2 Waardenburg syndrome Type 2 caused by mutations in the MITF gene. MONDO:0008671 Waardenburg syndrome without dystopia canthorum GARD:0005521 Waardenburg syndrome type IIA Ws2 Waardenburg syndrome, type 2A NCIT:C75011 MEDGEN:349786 Waardenburg syndrome type 2 caused by mutation in MITF MESH:C536464 Waardenburg syndrome type 2A OMIM:193510 WS2A DOID:0110950 Waardenburg syndrome type 2