NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
257100
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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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0005549) | Congenital neutropenia | 6 / 7739 | ||||
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(HPO:0001880) | Eosinophilia | 35 / 7739 | ||||
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(HPO:0003811) | Neonatal death | 44 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(MedDRA:10029358) | Neutropenia neonatal | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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