DEAFNESS, AUTOSOMAL DOMINANT 3B
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNA3B |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
612643
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0008615) | Adult onset sensorineural hearing impairment | 4 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Grifa et al. (1999) reported an Italian family with autosomal dominant hearing loss. The phenotype was variable, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. The phenotype showed linkage to chromosome 13q12, but ... |
| Molecular genetics OMIM | Grifa et al. (1999) identified a heterozygous mutation in the GJB6 gene (604418.0001) as a cause of autosomal dominant nonsyndromic sensorineural deafness in an Italian family. |