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Waardenburg syndrome type 4A
Summary
- Synonym
-
- WS4A
- Waardenburg syndrome type IVA
- Waardenburg syndrome with Hirschsprung disease 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.
- Super Class
- Waardenburg syndrome
External Links
- Disease Ontology
- DOID:0110953
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
