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GENATLAS PHENOTYPE |
last update : 01-09-2020 |
Symbol | TOLCAS |
Location | 19p13.12 |
Name | Tolchin-Le Caignec syndrome |
Corresponding gene | SOX6 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | mental retardation |
osteo-articular | |
psychiatry disorder | |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
| haploinsufficiency
|  
| |
Remark(s) |
|