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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 25-10-2016 |
Symbol | MMVC2 |
Location | 15q15.1 |
Name | congenital mirror movements, RAD51 related |
Corresponding gene | RAD51 |
Other symbol(s) | CMM, MRMV2 |
Main clinical features | involuntary movements of one side of the body that mirror intentional movements on the opposite side (PMID: 22305526)) |
Genetic determination | autosomal dominant |
Function/system disorder | neurology |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments | |
---|---|---|---|---|
nonsense | haploinsufficiency |
Remark(s) |