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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 16-03-2011 |
Symbol | CBLS | ||||||||
Location | 11q23.3 | ||||||||
Name | CBL syndrome | ||||||||
Corresponding gene | CBL | ||||||||
Main clinical features |
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Genetic determination
Prevalence
| In 3 patients with JMML
| Function/system disorder
|
| hematology |
| mental retardation | Type
| MCA/MR
| |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| heterozygous germline mutation pY371H
| |
Remark(s) |