Term Name:	Waardenburg syndrome type 2E
Synonyms:	hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation, Waardenburg syndrome type 2E with or without neurologic involvement, Waardenburg syndrome type IIE, WS2E, WS2E with or without neurological involvement
Definition:	A Waardenburg 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.
Ontology:	Human Disease [DOID:0110956]   ( DOID:0110956 )