DEAFNESS, AUTOSOMAL RECESSIVE 79
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB79 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
613307
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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: |
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| 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:0000750) | Delayed speech and language development | 197 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Khan et al. (2010) reported 3 consanguineous Pakistani families with severe to profound autosomal recessive prelingual nonsyndromic sensorineural hearing loss. Li et al. (2010) reported 2 Dutch sibs with DFNB79. Sensorineural hearing loss was diagnosed at ... |
| Molecular genetics OMIM |
In affected members of 4 consanguineous Pakistani families with autosomal recessive nonsyndromic deafness-79 (DFNB79; 613307), including the 3 families previously reported by Khan et al. (2010), Rehman et al. (2010) identified 4 different homozygous truncating mutations in the ... |