deafness—autosomal dominant 1

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deafness—autosomal dominant 12016-11-25T13:27:41+00:00

deafness—autosomal dominant 1

NEUROLOGY

Definition A form (OMIM:124900) of non-syndromic sensorineural hearing loss.*

*Sensorineural hearing loss is caused by 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 DIAPH1, which encodes a protein that is thought to regulate actin polymerisation of the hair cells of the inner ear, cause (nonsyndromic) deafness—autosomal dominant 1. 

Synonyms Deafness—progressive low tone, hereditary low-frequency hearing loss 

References http://www.uniprot.org/uniprot/O60610

http://www.omim.org/entry/124900

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