DEAFNESS, AUTOSOMAL DOMINANT 4B
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNA4B |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
614614
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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:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Sensorineural hearing loss, progressive bilateral postlingual | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Chen et al. (1995) identified a form of autosomal dominant nonsyndromic deafness in members of a large multigenerational family in which fluctuating, though inexorably progressive, sensorineural hearing loss began in the second decade and led to severe to ... |
| Molecular genetics OMIM |
In affected members of an American family segregating autosomal dominant deafness mapping to chromosome 19q12-q13.4, originally reported by Chen et al. (1995) (family 1070) and known to be negative for mutation in the MYH14 gene (608568), Zheng et ... |