Visualize
Metadata
DOID DOID:0110947
Name Waardenburg syndrome type 2B
Definition A Waardenburg's 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.
https://www.ncbi.nlm.nih.gov/pubmed/20127975, https://www.ncbi.nlm.nih.gov/pubmed/7951321
Synonyms

Waardenburg syndrome type IIB [EXACT]

WS2B [EXACT]

Xrefs

GARD:5522

OMIM:600193

Relationships

is_a Waardenburg's syndrome

Add an item to the term tracker