has material basis in germline mutation in
PAX3
Waardenburg syndrome type 1
https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1
UMLS:C1847800
WS1
Waardenburg's syndrome type 1
DOID:0110948
NCIT:C75008
MONDO:0008670
Waardenburg syndrome with dystopia canthorum
Waardenburg syndrome, type 1
Waardenburg syndrome type I
OMIM:193500
GARD:5519
ICD10CM:E70.3
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.
Waardenburg syndrome