Congenital hereditary facial paralysis with variable hearing loss
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital hereditary facial palsy with variable hearing loss Congenital hereditary facial paralysis with variable deafness Congenital hereditary facial palsy with variable deafness |
| Number of Symptoms | 4 |
| OrphanetNr: | 306530 |
| OMIM Id: |
604185
614744 |
| ICD-10: |
Q87.0 |
| 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 dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cranial nerve and nuclear aplasia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Paralytic facial malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease |
Symptom Information:
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003680) | Nonprogressive disorder | 23 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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