Waardenburg syndrome type 4B

Term ID

DOID:0110954

Synonyms

• Waardenburg syndrome type IVB
• Waardenburg syndrome with Hirschsprung disease type 4B
• WS4B

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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/8630502

References

• OMIM:613265

Ontology

Human Disease   ( DOID:0110954 )