This encoded protein is found as a subunit in sensorineural deafness phenotype.
2.
Loss of hearing caused by changes in the inner ear is called sensorineural deafness.
3.
Another 5 % later develop cerebral calcification ( decreasing IQ levels dramatically and causing sensorineural deafness and psychomotor retardation ).
4.
Disorders involving dysfunctional COX assembly via gene mutations include Leigh syndrome, cardiomyopathy, leukodystrophy, anemia, and sensorineural deafness.
5.
Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.
6.
Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 ( DFNA2 ), an autosomal dominant form of progressive hearing loss.
7.
The first type is pigment associated and is found in Border Collie puppies, although the puppies can have congenital sensorineural deafness from birth as well.
8.
Even though sensorineural deafness is irreversible, one treatment are cochlear implants, which includes a microphone and electronic devices that sit externally to the head.
9.
She also discovered a genetic syndrome involving deafness and a dental abnormality, described as the Glass-Gorlin Syndrome ( oligondtia and sensorineural deafness ).
10.
Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 ( COQ10D6 ), which manifests as nephrotic syndrome with sensorineural deafness.
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