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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 17-01-2012 |
Symbol | AGS2 |
Location | 13q14.3 |
Name | Aicardi-Goutieres syndrome 2 |
Corresponding gene | RNASEH2B |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
|  
| |
Remark(s) |