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severe congenital neutropenia 4
Summary
- Synonym
-
- Dursun syndrome
- SCN4
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
- Definition
- A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.
- Super Class
- autosomal recessive disease severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0112136
- ORDO
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001510 | Growth delay |
| HP:0001642 | Pulmonic stenosis |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001653 | Mitral regurgitation |
| HP:0001684 | Secundum atrial septal defect |
| HP:0001744 | Splenomegaly |
| HP:0001873 | Thrombocytopenia |
| HP:0001875 | Neutropenia |
| HP:0001882 | Leukopenia |
| HP:0001888 | Lymphopenia |
