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severe congenital neutropenia 8
Summary
- Synonym
-
- SCN8
- SDSL
- Shwachman-Diamond syndrome-like
- autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
- Definition
- An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.
- Super Class
- autosomal dominant severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0112135
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011463 | Childhood onset |
| HP:0000729 | Autistic behavior |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0002570 | Steatorrhea |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0004322 | Short stature |
| HP:0010701 | Abnormal immunoglobulin level |
| HP:0001263 | Global developmental delay |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
