FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)
General Information (adopted from Orphanet):
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Synonyms, Signs:
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FRA16A
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Number of Symptoms
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4
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OrphanetNr:
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OMIM Id:
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136580
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000789)
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Infertility |
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74 / 7739
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2
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(HPO:0005268)
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Spontaneous abortion |
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15 / 7739
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3
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(HPO:0002916)
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Abnormality of chromosome segregation |
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5 / 7739
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4
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(HPO:0002733)
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Abnormality of the lymph nodes |
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3 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |