Term Name: | Waardenburg syndrome type 2B |
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Synonyms: | Waardenburg syndrome type IIB, WS2B |
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 variation in the chromosome region 1p21-p13.3. |
Ontology: | Human Disease [DOID:0110947] ( DOID:0110947 ) |