Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 23-08-2017 |
Symbol | MRD46 |
Location | 6q13 |
Name | mental retardation, autosomal dominant 46 |
Corresponding gene | KCNQ5 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | mental retardation |
neurology | |
Type | disease |
Remark(s) | . primary consequence of KCNQ5 mutations is likely a change in the gating properties of M-channels (PMID: 28669405)) |