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Autosomal dominant nonsyndromic hearing loss 66(DFNA66)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Deafness, autosomal dominant 66
Gene (location): CD164 (6q21)
Monarch Initiative: MONDO:0014854
OMIM®: 616969


Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset (Nyegaard et al., 2015). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
Concept ID:
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormal vestibular function
MedGen UID:
Concept ID:
An abnormality of the functioning of the vestibular apparatus.

Recent clinical studies


Yen TT, Chen IC, Hua MW, Wei CY, Shih KH, Li JL, Lin CH, Hsiao TH, Chen YM, Jiang RS
Genes (Basel) 2021 Oct 27;12(11) doi: 10.3390/genes12111711. PMID: 34828318Free PMC Article

Clinical prediction guides

Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM
Am J Hum Genet 2000 Jun;66(6):1984-8. Epub 2000 Apr 24 doi: 10.1086/302931. PMID: 10777717Free PMC Article
Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM
Am J Hum Genet 2000 Apr;66(4):1437-42. Epub 2000 Mar 17 doi: 10.1086/302865. PMID: 10739769Free PMC Article

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