Waardenburg syndrome type 2E
MONDO:0012698Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.
Also known as: SOX10 Waardenburg syndrome type 2, WS2E, Waardenburg syndrome type 2 caused by mutation in SOX10, Waardenburg syndrome, type 2E, Waardenburg syndrome, type 2E, with or without neurologic involvement, Ws2E, with or without neurologic involvement, hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation
5 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
Disease
(618)
Hereditary disease
(172)
Syndromic disease
(24)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Waardenburg syndrome
(1)
Waardenburg syndrome type 2
(1)
Autosomal dominant disease
(0)