Postaxial polydactyly type A
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 93334 |
| OMIM Id: |
174200
263450 602085 607324 608562 615226 |
| ICD-10: |
Q69.0 |
| 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 recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Postaxial polydactyly of fingers
-Postaxial polydactyly of fingers |
Symptom Information:
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(HPO:0100258) | Preaxial polydactyly | 39 / 7739 | ||||
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(HPO:0001162) | Postaxial hand polydactyly | 119 / 7739 | ||||
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(HPO:0011304) | Broad thumb | rare [HPO:skoehler] | 39 / 7739 | |||
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(HPO:0001159) | Syndactyly | rare [HPO:skoehler] | 140 / 7739 | |||
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(HPO:0001199) | Triphalangeal thumb | rare [HPO:skoehler] | 56 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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