| Symbol
| NSC8
|
| Location
| 14q13.2
|
| Name
|
neutropenia, severe congenital, 8, autosomal dominant |
| Other name(s)
|
SHWACHMAN-DIAMOND suyndrome-like |
| Corresponding gene
|
SRP54
|
| Other symbol(s)
| SDSL
|
| Main clinical features
|
pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy
bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts
any patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| hematology |
| Type
| disease
|