Waardenburg syndrome type 2A

Term ID

DOID:0110950

Synonyms

• Waardenburg syndrome type IIA
• WS2A

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 heterozygous mutation in the MITF gene on chromosome 3p13. (2)

References

• GARD:5521
• MESH:C536464
• MIM:193510

Ontology

Human Disease   ( DOID:0110950 )