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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 42; Deafness, autosomal dominant 52
 
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

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
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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