Waardenburg syndrome type 2E

Term ID

DOID:0110956

Synonyms

• hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
• Waardenburg syndrome type 2E with or without neurologic involvement
• Waardenburg syndrome type IIE
• WS2E
• WS2E with or without neurological involvement

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 mutations in the SOX10 gene on chromosome 22q13. (2)

References

• OMIM:611584

Ontology

Human Disease   ( DOID:0110956 )