DEAFNESS, AUTOSOMAL DOMINANT 3A
General Information (adopted from Orphanet):
Synonyms, Signs: |
DFNA3A |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
601544
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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:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(OMIM) | Nonsyndromic neurosensory deafness | 2 / 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:
Molecular genetics OMIM |
Kelsell et al. (1997) identified a mutation in the GJB2 gene (M34T; 121011.0001) in affected members of a pedigree segregating autosomal dominant deafness. They also identified mutations in the GJB2 gene in 3 autosomal recessive nonsyndromic sensorineural deafness ... |