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Definition

An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.

Acronym

WS2E

Synonyms

Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
Kallmann syndrome and deafness with or without hypopigmentation
Waardenburg syndrome type 2E with or without neurologic involvement
Waardenburg syndrome type IIE
WS2E with or without neurologic involvement

Keywords

Waardenburg syndrome
Kallmann syndrome

 
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