GAA
Deellabo: | PGD DNA |
Gen (Gen Code): | GAA |
Aliases Gen: | LYAG |
Gen ID (NCBI): | 2548 |
OMIM Gen ID: | 606800 |
Chromosomale locatie: | 17q25.3 |
Genetische aandoening / Analyse: | Glycogeen stapelingsziekte II, ziekte van Pompe |
OMIM aandoening ID: | 232300 |
Overerving: | AR |
Aliases aandoening: | GLYCOGEN STORAGE DISEASE II GSD II; GSD2 ACID ALPHA-GLUCOSIDASE DEFICIENCY GAA DEFICIENCY POMPE DISEASE GLYCOGENOSIS, GENERALIZED, CARDIAC FORM CARDIOMEGALIA GLYCOGENICA DIFFUSA ACID MALTASE DEFICIENCY; AMD ALPHA-1,4-GLUCOSIDASE DEFICIENCY |