DEAFNESS, AUTOSOMAL RECESSIVE 15
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DEAFNESS, AUTOSOMAL RECESSIVE 95 DFNB15 DFNB95 DEAFNESS, AUTOSOMAL RECESSIVE 72 DFNB72 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
601869
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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: |
Childhood onset [Omim] |
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 | ||||
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(OMIM) | Hearing loss, moderate to severe, bilateral, nonprogressive | 1 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011). |
| Clinical Description OMIM |
Van Camp et al. (1997) and Chen et al. (1997) reported a consanguineous Indian family with prelingual stable nonsyndromic deafness. Ain et al. (2007) studied 3 consanguineous Pakistani families with prelingual-onset bilateral nonprogressive hearing loss that ... |
| Molecular genetics OMIM |
- Mutations in the GIPC3 Gene In affected members of an Indian family, previously reported by Van Camp et al. (1997) and Chen et al. (1997), and a Dutch family, both with autosomal recessive sensorineural deafness ... |