NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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6
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OrphanetNr:
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OMIM Id:
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616022
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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:0000403)
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Recurrent otitis media |
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61 / 7739
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2
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(HPO:0001508)
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Failure to thrive |
rare [HPO:skoehler]
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454 / 7739
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3
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(HPO:0004322)
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Short stature |
rare [HPO:skoehler]
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1232 / 7739
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4
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(HPO:0001875)
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Neutropenia |
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83 / 7739
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5
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(HPO:0002205)
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Recurrent respiratory infections |
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254 / 7739
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6
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(HPO:0002718)
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Recurrent bacterial infections |
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75 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |