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Progressive sensorineural hearing impairment
- ... Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular ...
- ... loss caused by problems with the inner ear (sensorineural hearing loss), and digestive problems.Typically, mutations that cause progressive external ophthalmoplegia occur in one copy of the ...
- ... and conductance of the KCNQ4 channel lead to sensorineural hearing loss. J Cell Mol ... dominant form of progressive hearing loss, DFNA2. J Biol Chem. 2011 Jan ...
- ... WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet. 2001 Oct 15;10(22): ... in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet. 2002 ...
- ... of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. J Med Genet. 2001 May;38(5):E13. doi: 10.1136/jmg.38.5.e13. No abstract available. Citation on ... form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol ...
- ... of this disorder include difficulty coordinating movements (ataxia), hearing loss caused by abnormalities of the inner ear (sensorineural deafness), and excessive daytime sleepiness (narcolepsy). Cognitive decline ...