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Autosomal dominant nonsyndromic hearing loss 3B(DFNA3B)

MedGen UID:
436382
Concept ID:
C2675237
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 3b; GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): GJB6 (13q12.11)
 
Monarch Initiative: MONDO:0012975
OMIM®: 612643

Authors:
A Eliot Shearer  |  Michael S Hildebrand  |  Amanda M Schaefer, et. al.   view full author information

Clinical features

From HPO
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  

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