DEAFNESS, AUTOSOMAL RECESSIVE 24
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB24 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
611022
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
Infantile onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0011476) | Profound sensorineural hearing impairment | 7 / 7739 | ||||
|
|
(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Deafness, profound, sensorineural | 7 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Khan et al. (2007) reported 3 Pakistani families with isolated autosomal recessive sensorineural deafness, Two of the families were known to be consanguineous. The deafness showed prelingual onset and was bilateral and profound. None of the affected individuals ... |
| Molecular genetics OMIM |
In affected members of 3 Pakistani families with isolated autosomal recessive sensorineural deafness, Khan et al. (2007) identified 3 respective homozygous mutations in the RDX gene (179410.0001-179410.0003). In 4 affected members of a consanguineous Iranian family ... |