PAX6
Deellabo: | PGD DNA |
Gen (Gen Code): | PAX6 |
Aliases Gen: | AN; AN2; MGDA; WAGR; D11S812E; MGC17209; PAX6 |
Gen ID (NCBI): | 5080 |
OMIM Gen ID: | 607108 |
Chromosomale locatie: | 11p13 |
Genetische aandoening / Analyse: | Foveale hypoplasie en preseniel cataract syndroom |
OMIM aandoening ID: | 136520 |
Overerving: | AD |
Aliases aandoening: | FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME FOVEAL HYPOPLASIA, ISOLATED, INCLUDED FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED |