DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for Waardenburg syndrome type 2E

Waardenburg syndrome type 2E [DOID:0110956]

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.

Synonyms:  Waardenburg syndrome type 2E,  DOID:0110956,  WS2E,  WS2E with or without neurological involvement,  Waardenburg syndrome type 2E with or without neurologic involvement ...