Autosomal recessive nonsyndromic sensorineural deafness type DFNB
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Autosomal recessive nonsyndromic neurosensory deafness type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive isolated neurosensory deafness type DFNB |
| Number of Symptoms | 0 |
| OrphanetNr: | 90636 |
| OMIM Id: |
220290
220900 600060 600316 600791 600792 600971 600974 601071 601072 601386 601869 602092 603010 603098 603629 603678 603720 604060 605428 605818 607039 607084 607101 607239 607821 608219 608264 608265 608565 608653 609006 609439 609533 609646 609647 609706 609823 609941 609946 609952 610143 610153 610154 610212 610220 610248 610265 610419 611022 611451 612433 612645 612789 613079 613285 613307 613391 613392 613453 613685 613718 613865 613916 614035 614414 614617 614861 614899 614934 614944 614945 615429 615540 |
| ICD-10: |
H90.3 |
| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Postlingual nonsyndromic genetic deafness
-Rare genetic disease -Rare otorhinolaryngologic disease Prelingual nonsyndromic genetic deafness -Rare genetic disease -Rare otorhinolaryngologic disease |
Comment:
| This term does not characterize a disease but a group of nonsyndromic diseases. Annotations can be found at a more specific level. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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