Version: 8.0.0
Date: Tue Jan 28 2025
Waardenburg syndrome type 2E
DOID:0110956
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Waardenburg syndrome type 2E

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.
Synonyms
  • hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
  • Waardenburg syndrome type 2E with or without neurologic involvement
Cross References
Parent Terms
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None
Sources of Associations

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