severe congenital neutropenia 8 (DOID:0112135)
Alliance: disease page
Synonyms: autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities; SCN8; SDSL; Shwachman-Diamond syndrome-like
Alt IDs: OMIM:618752
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.