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Human Disease

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
Ontology
Human Disease   ( DOID:0110956 )
Relationships
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Genes Involved
Zebrafish Models