Health / Medical Topics |
Waardenburg Syndrome
A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. (NCI Thesaurus)
YOU MAY ALSO LIKE
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
High incidence (97% in females, 36% in males) of spontaneous thymomas starting from about one year of age. They sometimes caused dyspnea,…