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GTR Home > Conditions/Phenotypes > X-linked mixed hearing loss with perilymphatic gusher

X-linked mixed hearing loss with perilymphatic gusher

Synonyms
DFNX2 Nonsyndromic Hearing Loss and Deafness; Deafness 3 conductive with stapes fixation; Deafness conductive with stapes fixation; Deafness mixed with perilymphatic gusher; Deafness, X-linked 2; Dfn 3 nonsyndromic hearing loss and deafness; Gusher syndrome; Nance deafness; Perilymphatic Gusher-deafness syndrome; Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear

Summary

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 de Kok et al., 1995 and 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. [from OMIM]

Available tests

55 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2
    Summary: gap junction protein beta 2

  • Also known as: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, GJB6
    Summary: gap junction protein beta 6

  • Also known as: BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9, POU3F4
    Summary: POU class 3 homeobox 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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