Human genes for Waardenburg syndrome type 2E
Waardenburg syndrome type 2E [DOID:0110956]
A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.
Synonyms: Waardenburg syndrome type 2E, DOID:0110956, hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation, Waardenburg syndrome type 2E with or without neurologic involvement, Waardenburg syndrome type IIE ...