FMR1
Deellabo: | PGD DNA |
Gen (Gen Code): | FMR1 |
Aliases Gen: | POF; FMRP; POF1; FRAXA; MGC87458; FMR1 |
Gen ID (NCBI): | 2332 |
OMIM Gen ID: | 309550 |
Chromosomale locatie: | Xq27.3 |
Genetische aandoening / Analyse: | Fragiele-X syndroom |
OMIM aandoening ID: | 300624 |
Overerving: | X-linked R |
Opmerking 3: | For this indication, one of the existing tests can be used for most couples. |
Aliases aandoening: | FRAGILE X MENTAL RETARDATION SYNDROME FRAGILE X SYNDROME MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28 X-LINKED MENTAL RETARDATION AND MACROORCHIDISM MARKER X SYNDROME MARTIN-BELL SYNDROME |