Waardenburg Syndrome Type 2D
HUMAN DISEASE
Waardenburg syndrome type 2D; Draft:The Waardenburg Syndrome Type 2D; The Waardenburg Syndrome Type 2D
Waardenburg Syndrome Type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea.