DEAFNESS, AUTOSOMAL RECESSIVE 35
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB35 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
608565
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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 | 18179891 | 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 | Ansar et al. (2003) described a large inbred Pakistani kindred comprising 6 generations and segregating autosomal recessive nonsyndromic, nonprogressive prelingual deafness. |
| Molecular genetics OMIM |
Collin et al. (2008) performed mutation analysis of ESRRB, a candidate gene in the DFNB35 overlapping critical region, and detected a homozygous 7-bp duplication in exon 8 (602167.0001) in all affected individuals of a consanguineous Turkish family. The ... |