Version: 8.0.0
Date: Tue Jan 28 2025
Waardenburg syndrome type 2A
DOID:0110950
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Waardenburg syndrome type 2A

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.
Synonyms
  • Waardenburg syndrome type IIA
  • WS2A
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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