Sensorineural hearing loss - early graying - essential tremor
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 66633 |
| OMIM Id: |
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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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic tremor disorder
-Rare genetic disease Rare tremor disorder -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0001100) | Heterochromia iridis | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0000592) | Blue sclerae | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001337) | Tremor | Frequent [Orphanet] | 200 / 7739 | |||
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(HPO:0002216) | Premature graying of hair | Very frequent [Orphanet] | 43 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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