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Waardenburg syndrome type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
Uniprot Description WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.
Mondo Term and Equivalent IDs
MONDO:0007862:  Waardenburg syndrome type 3
GARD:0005523: 
Orphanet:896: