BIFID NOSE, AUTOSOMAL DOMINANT
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
109740
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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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0011803) | Bifid nose | 12 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(OMIM) | No hypertelorism | 1 / 7739 | ||||
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(OMIM) | Soliosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Anyane-Yeboa et al. (1984) reported 5 women in 3 generations who had bifid nose without hypertelorism. Skull films and chromosomes of the youngest sisters were normal. Miles and Smith (1985) insisted that the dominant bifid nose syndrome is ... |