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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 15-01-2021 |
Symbol | SCNP3 |
Location | 1q21.3 |
Name | severe congenital neutropenia 3 |
Other name(s) | Kostmann disease |
Corresponding gene | HAX1 |
Other symbol(s) | SCN3 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | defense and immunity |
Type | disease |
Remark(s) |