deafness—autosomal dominant—10

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deafness—autosomal dominant—102016-11-25T13:35:11+00:00

deafness—autosomal dominant—10

ENT

Definition An autosomal dominant (OMIM:601316) form of non-syndromic sensorineural hearing loss*.

*Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 

Molecular pathology Defects of EYA4, which encodes encodes an eyes absent protein thought to activate transcription that may be important for eye development, and for maintaining the organ of Corti, cause deafness—autosomal dominant—type 10. 

Synonyms Non-syndromic neurosensory deafness autosomal dominant type 10, non-syndromic sensorineural deafness autosomal dominant type 10 

References http://www.uniprot.org/uniprot/O95677

http://www.omim.org/entry/601316

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