DEAFNESS, AUTOSOMAL RECESSIVE 70
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB70 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
614934
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
|
(OMIM) | Bilateral hearing loss | 2 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM | Von Ameln et al. (2012) reported a consanguineous Moroccan family in which 3 sibs had nonsyndromic severe hearing impairment with onset in early childhood. |
| Molecular genetics OMIM |
By homozygosity mapping followed by candidate gene analysis of a Moroccan family with DFNB70, von Ameln et al. (2012) identified a homozygous mutation in the PNPT1 gene (E475G; 610316.0002). The mutant protein was expressed, stable, and showed normal ... |