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Autosomal dominant nonsyndromic hearing loss 52(DFNA52; DFNA42)

MedGen UID:
334357
•Concept ID:
C1843232
•
Disease or Syndrome
Synonyms: Deafness, Autosomal Dominant 52; DFNA52
 
Monarch Initiative: MONDO:0011893
OMIM®: 607683

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. [from MONDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.
Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ, Kim UK
Genes Genomics 2023 Feb;45(2):225-230. Epub 2023 Jan 11 doi: 10.1007/s13258-022-01357-3. PMID: 36630074
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article

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