DEAFNESS, AUTOSOMAL RECESSIVE 29
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB29 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
614035
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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 | 11163249 | IBIS | 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 | Wilcox et al. (2001) described 2 large consanguineous Pakistani families segregating profound congenital deafness. |
| Molecular genetics OMIM |
Wilcox et al. (2001) screened the candidate gene CLDN14 for mutations in 2 Pakistani families with DFNB29. They identified 2 homozygous mutations: a 1-bp deletion (398delT; 605608.0001) in 1 family and a val85-to-asp mutation (605608.0002) in the other. ... |