has material basis in germline mutation in PAX3 Waardenburg syndrome type 1 https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 https://www.malacards.org/card/waardenburg_syndrome_type_1 UMLS:C1847800 WS1 Waardenburg's syndrome type 1 DOID:0110948 NCIT:C75008 MEDGEN:376211 MONDO:0008670 Waardenburg syndrome with dystopia canthorum Waardenburg syndrome, type 1 Waardenburg syndrome type I OMIM:193500 GARD:0005519 Orphanet:894 Waardenburg syndrome type 1 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. icd11.foundation:547536187 Waardenburg syndrome