Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Glycogen storage diseaseR-numbers: R274 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycogen storage disease Ia 232200 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycogen Storage Disease Type I, Glycogen Storage Disorders- Liver, Glycogen Storage Disease, Glycogen Storage Disease Ia, Glycogen storage disease Ia, 232200, Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders), Glycogen storage disease Ia, fasting intolerance with enlarged liver, renal tubular disease |