DEAFNESS, AUTOSOMAL RECESSIVE 88
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB88 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
615429
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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 | 539 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Hearing loss, sensorineural and conductive, severe to profound | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Jaworek et al. (2013) reported a consanguineous Pakistani family in which 6 individuals had prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. None had evidence of vestibular involvement. Bone conduction thresholds of 2 patients ... |
| Molecular genetics OMIM |
In affected members of a consanguineous Pakistani family with DFNB88, Jaworek et al. (2013) identified a homozygous mutation in the ELMOD3 gene (L265S; 615427.0001) that segregated with the disorder in the family. The mutation was found by exome ... |