Waardenburg syndrome type 2B

Term ID

DOID:0110947

Synonyms

• Waardenburg syndrome type IIB
• WS2B

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 variation in the chromosome region 1p21-p13.3. (2)

References

• GARD:5522
• MESH:C536465
• MIM:600193

Ontology

Human Disease   ( DOID:0110947 )