DEAFNESS, AUTOSOMAL RECESSIVE 22
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB22 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
607039
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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 recessive 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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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM | Zwaenepoel et al. (2002) reported a consanguineous Palestinian family with autosomal recessive moderate to severe prelingual sensorineural deafness. |
| Molecular genetics OMIM |
In a consanguineous Palestinian family with prelingual sensorineural recessive deafness mapping to chromosome 16p13.1-q11.2, Zwaenepoel et al. (2002) identified a homozygous splice site mutation in the OTOA gene (IVS12+2T-C; 607038.0001). In affected sibs from a consanguineous ... |