Mosaic trisomy 15
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 8 |
OrphanetNr: | 1706 |
OMIM Id: |
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ICD-10: |
Q92.1 |
UMLs: |
C2931707 |
MeSH: |
C538037 |
MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Total autosomal trisomy
-Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0012638) | Abnormality of nervous system physiology | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0009466) | Radial deviation of finger | Frequent [Orphanet] | 101 / 7739 | |||
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(HPO:0001155) | Abnormality of the hand | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001428) | Somatic mutation | Frequent [Orphanet] | 100 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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