DEAFNESS, AUTOSOMAL RECESSIVE 53
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB53 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
609706
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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 | Chen et al. (2005) reported a consanguineous Iranian family with a prelingual, profound, nonprogressive, and nonsyndromic sensorineural hearing loss. |
| Molecular genetics OMIM |
In 5 affected members of 2 sibships of a consanguineous Iranian family with nonsyndromic hearing loss, Chen et al. (2005) identified homozygosity for a missense mutation in the COL11A2 gene (120290.0010). The 4 parents and 1 sib were ... |