DEAFNESS, AUTOSOMAL RECESSIVE 67
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DFNB67 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
610265
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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:0000407) | Sensorineural hearing impairment | 16459341 | IBIS | 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 |
Shabbir et al. (2006) reported 2 large consanguineous Pakistani families segregating autosomal recessive nonsyndromic deafness, Kalay et al. (2006) reported Turkish consanguineous families with autosomal recessive nonsyndromic deafness. Affected individuals presented with bilateral profound hearing loss ... |
| Molecular genetics OMIM |
In 2 consanguineous Pakistani families segregating nonsyndromic deafness, Shabbir et al. (2006) identified homozygous mutations in the LHFPL5 gene (609427.0001-609427.0002) as the cause of the disorder. In 2 large Turkish consanguineous families with autosomal recessive nonsyndromic ... |