Term Name: Waardenburg syndrome type 2A
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 )

Relationships
is a type of: digenic disease Waardenburg syndrome