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GENATLAS PHENOTYPE |
last update : 05-10-2017 |
Symbol | MRX21 |
Location | Xp21.3 |
HGNC id | 7251 |
Name | mental retardation, 21 |
Corresponding gene | IL1RAPL1 |
Other symbol(s) | MRX34 |
Main clinical features |
|
Genetic determination | sex linked |
Function/system disorder | mental retardation |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| other
|  
| truncated protein
| W487X, in exon 10, point mutation
| |
Remark(s) | disruption of IL1RAPL1 having the potential of causing a wide spectrum of conditions ranging from mental retardation to high-functioning autism |