X-linked mixed hearing loss with perilymphatic gusher
X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.
MONDO:0002467
inner ear disorder
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MONDO:0016297
prelingual non-syndromic genetic hearing loss
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MONDO:0018751
hereditary otorhinolaryngologic disease
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MONDO:0019586
X-linked nonsyndromic hearing loss
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DFN 3 nonsyndromic hearing loss and deafness
related
DFN3
related
DFNX2
exact
Nance deafness
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X-linked deafness type 2
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X-linked mixed conductive and neurosensory deafness
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X-linked mixed conductive and sensorineural deafness
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X-linked mixed deafness with perilymphatic gusher
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X-linked mixed hearing loss with perilymphatic gusher
exact
central hearing loss
broad
conductive deafness with stapes fixation
narrow
deafness 3 conductive with stapes fixation
related
deafness conductive with stapes fixation
related
deafness mixed with perilymphatic gusher
related
deafness mixed with perilymphatic gusher, X-linked
narrow
deafness, X-linked 2
related
deafness, X-linked 2, X-linked recessive
narrow
deafness, X-linked type 2
narrow
gusher syndrome
related
high frequency deafness
broad
high frequency hearing loss
broad
high-frequency hearing loss
broad
perceptive deafness
broad
perceptive hearing loss
broad
perceptive hearing loss or deafness
broad
sensorineural deafness
broad
sensorineural hearing loss
broad
sensory hearing loss
broad