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GENATLAS PHENOTYPE |
last update : 04-12-2014 |
Symbol | RCDP4 |
Location | 11p145.2 |
Name | rhizomelic chondrodysplasia punctata, type 4 |
Corresponding gene | FAR1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | mental retardation |
metabolism/lipoprotein-lipid | |
neurology | |
eye | |
Type | disease |
Gene product |
Name | . mutations abolished the reductase activity of FAR1, given that no fatty alcohols could be detected (PMID: 25439727) |
Remark(s) |