DEAFNESS, AUTOSOMAL RECESSIVE 63
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB63 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
611451
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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:0000365) | Hearing impairment | 539 / 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 |
Tlili et al. (2006) reported a 6-generation consanguineous Tunisian family segregating autosomal recessive congenital hearing impairment. Audiometric testing of 7 affected individuals showed bilateral profound hearing impairment involving all frequencies, whereas 11 affected individuals had profound hearing loss ... |
| Molecular genetics OMIM |
In affected members of 4 unrelated families with autosomal recessive deafness-63, Ahmed et al. (2008) identified 4 different homozygous mutations in the LRTOMT gene (612414.0001-612414.0004). The families were of Turkish, Tunisian, and Pakistani origin. Some of the families ... |