obsolete Waardenburg syndrome type 2D

Term ID

DOID:0110952

Synonyms

• Waardenburg syndrome type IID
• WS2D

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 homozygous deletion of the SNAI2 gene on chromosome 8q11. (3)

References

• OMIM:608890

Obsolete

true

Ontology

Human Disease   ( DOID:0110952 )