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Autosomal dominant nonsyndromic hearing loss 16(DFNA16)

MedGen UID:
349054
Concept ID:
C1858916
Disease or Syndrome
Synonym: Deafness, autosomal dominant 16
 
Monarch Initiative: MONDO:0011389
OMIM®: 603964

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. [from MONDO]

Clinical features

From HPO
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Adult onset sensorineural hearing impairment
MedGen UID:
867176
Concept ID:
C4021534
Disease or Syndrome
The presence of sensorineural deafness with late onset.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Prognosis

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB
Hum Genet 2022 Apr;141(3-4):363-382. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02304-0. PMID: 34232383Free PMC Article
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free PMC Article

Clinical prediction guides

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB
Hum Genet 2022 Apr;141(3-4):363-382. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02304-0. PMID: 34232383Free PMC Article
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free PMC Article

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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