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Autosomal dominant nonsyndromic hearing loss 2B(DFNA2B)

MedGen UID:
390742
•Concept ID:
C2675236
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 2b; DEAFNESS, AUTOSOMAL DOMINANT, WITH OR WITHOUT PERIPHERAL NEUROPATHY; DFNA 2B Nonsyndromic Hearing Loss and Deafness
 
Gene (location): GJB3 (1p34.3)
 
Monarch Initiative: MONDO:0012976
OMIM®: 612644

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. [from MONDO]

Clinical features

From HPO
High-frequency hearing impairment
MedGen UID:
42358
•Concept ID:
C0018780
•
Disease or Syndrome
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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