[DEL] NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4
General Information (adopted from Orphanet):
Synonyms, Signs:
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GSD-I related syndrome GSD-Irs
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Number of Symptoms
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0
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OrphanetNr:
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OMIM Id:
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612541
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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:
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<
0.1
of 100 000
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Inheritance:
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Autosomal recessive
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Age of onset:
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Disease classification (adopted from Orphanet):
Parent Diseases:
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No data available.
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ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |