Version: 8.0.0
Date: Tue Jan 28 2025
Waardenburg syndrome type 4A
DOID:0110953
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Waardenburg syndrome type 4A

Definition
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.
Synonyms
  • Waardenburg syndrome type IVA
  • Waardenburg syndrome with Hirschsprung disease type 4A
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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