Progressive deafness with stapes fixation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Stapedo-vestibular ankylosis Thies-Reis syndrome |
| Number of Symptoms | 4 |
| OrphanetNr: | 3235 |
| OMIM Id: |
601449
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| ICD-10: |
H74.3 |
| 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: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic genetic deafness
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0008513) | Bilateral conductive hearing impairment | 11 / 7739 | ||||
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(HPO:0000381) | Stapes ankylosis | 7 / 7739 | ||||
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(OMIM) | Stapes fixation | 6 / 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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