Deafness - oligodontia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 9 |
| OrphanetNr: | 3230 |
| OMIM Id: |
221740
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| ICD-10: |
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| UMLs: |
C1857333 |
| MeSH: |
C538049 |
| 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: |
Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000699) | Diastema | 10 / 7739 | ||||
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(HPO:0000677) | Oligodontia | 41 / 7739 | ||||
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(HPO:0011390) | Morphological abnormality of the inner ear | Occasional [Orphanet] | 21 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0002141) | Gait imbalance | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Bilateral congenital profound sensorineural hearing loss | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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