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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): Gene(s) directly associated with this condition or phenotype.	GJB6 (13q12.11)

Monarch Initiative:	MONDO:0012975
OMIM®:	612643

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. [from MONDO]

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.

See: Feature record | Search on this feature

Ear malformation
- Adult onset sensorineural hearing impairment

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDFNA 3 Nonsyndromic Hearing Loss and Deafness
- CROGVAutosomal dominant nonsyndromic hearing loss 3A
- CROGVAutosomal dominant nonsyndromic hearing loss 3B

DFNA 3 Nonsyndromic Hearing Loss and Deafness
- Autosomal dominant nonsyndromic hearing loss 3B

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ClinVar
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Related information in NCBI Gene
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GTR(Clinical)
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OMIM
Related records in OMIM
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OMIM records containing genes associated with phenotypes registered in MedGen
PubMed (Bookshelf cited)
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Autosomal dominant nonsyndromic hearing loss 3B
Autosomal dominant nonsyndromic hearing loss 3B

MedGen
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal dominant nonsyndromic hearing loss 3A

MedGen
Genetic Hearing Loss Overview - GeneReviews®
Genetic Hearing Loss Overview - GeneReviews®
Table 8. [Recommended Follow Up for Select Genetic Causes of Hearing Loss by Pro...
Table 8. [Recommended Follow Up for Select Genetic Causes of Hearing Loss by Progression Type]. - GeneReviews®
Table 7. [Specific Medical Therapy for Select Genetic Disorders]. - GeneReviews®
Table 7. [Specific Medical Therapy for Select Genetic Disorders]. - GeneReviews®

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