DEAFNESS, AUTOSOMAL RECESSIVE 61
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB61 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
613865
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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 | 12719379 | IBIS | 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 |
Liu et al. (2003) identified a homozygous mutation in the SLC26A5 gene in probands from 2 unrelated families segregating nonsyndromic autosomal recessive deafness. One of the probands was born to consanguineous parents in a multiplex sibship, whereas the ... |
| Molecular genetics OMIM |
In 2 of 220 hearing-impaired Caucasian probands, Liu et al. (2003) identified an A-to-G transition at the intron 2/exon 3 junction of the SLC26A5 gene (604943.0001). In addition, heterozygosity for this mutation was observed in 7 (3%) of ... |