Term Name: | Waardenburg syndrome type 2A |
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Synonyms: | Waardenburg syndrome type IIA, WS2A |
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 mutation in the MITF gene on chromosome 3p13. |
Ontology: | Human Disease [DOID:0110950] ( DOID:0110950 ) |