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Waardenburg syndrome type 2E (DOID:0110956)
Alliance: disease page
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
Alt IDs: OMIM:611584
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/21/2024
MGI 6.23
The Jackson Laboratory