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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:0000007 | Autosomal recessive inheritance |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000126 | Hydronephrosis |
| HP:0000155 | Oral ulcer |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
