DEAFNESS, AUTOSOMAL RECESSIVE 46
General Information (adopted from Orphanet):
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Synonyms, Signs:
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DFNB46
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Number of Symptoms
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7
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OrphanetNr:
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OMIM Id:
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609647
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Infantile onset
[Omim]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000407)
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Sensorineural hearing impairment |
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524 / 7739
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2
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(HPO:0011476)
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Profound sensorineural hearing impairment |
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7 / 7739
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3
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(HPO:0008625)
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Severe sensorineural hearing impairment |
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150 / 7739
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4
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(HPO:0008527)
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Congenital sensorineural hearing impairment |
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165 / 7739
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5
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(HPO:0003593)
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Infantile onset |
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249 / 7739
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6
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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7
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(OMIM)
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Deafness, profound |
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4 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |
Additional Information:
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Clinical Description
OMIM
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Mir et al. (2005) reported a consanguineous Pakistani family in which 9 members had a prelingual, nonsyndromic form of profound neurosensory deafness.
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