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Waardenburg syndrome type 2A
Summary
- Synonym
-
- WS2A
- Waardenburg syndrome type IIA
- 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.
- Super Class
- Waardenburg syndrome digenic disease
