DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, INCLUDED |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
609006
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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:0008568) | Vestibular areflexia | 5 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 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 |
Naz et al. (2004) reported 2 consanguineous Pakistani families segregating recessively inherited deafness and vestibular areflexia. Affected individuals exhibited prelingual profound sensorineural hearing loss and independent ambulation delayed beyond 1.5 years of age. The affected members of the ... |
| Molecular genetics OMIM |
In 2 consanguineous Pakistani families segregating recessively inherited deafness and vestibular areflexia, Naz et al. (2004) identified 2 different homozygous frameshift mutations in the espin gene (606351.0001-606351.0002). In 6 affected members of a consanguineous Moroccan family ... |