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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:0000388 | Otitis media |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000768 | Pectus carinatum |
| HP:0000778 | Hypoplasia of the thymus |
| HP:0000954 | Single transverse palmar crease |
| HP:0001015 | Prominent superficial veins |
| HP:0001263 | Global developmental delay |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
