Deafness, X-Linked 2

Common Name(s)

Deafness, X-Linked 2, Deafness Mixed with Perilymphatic Gusher, X-Linked

DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by {11:de Kok et al., 1995} and {29:Song et al., 2010}). See also choroideremia, deafness, and mental retardation ({303110}), a contiguous gene deletion syndrome involving the POU3F4 and CHM ({300390}) genes on Xq21; isolated choroideremia ({303100}) is caused by mutation in the CHM gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Deafness, X-Linked 2" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.