Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 10/07/2006 |
Symbol | HPLH4 |
Location | 6q24 |
Name | hemophagocytic lymphohistiocytosis, familial, 4 |
Corresponding gene | STX11 |
Other symbol(s) | FHL4, HLH4 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | hematology |
Type | disease |
Gene product |
Name | syntaxin 11 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|  
| abnormal protein/loss of function
|  
| |