Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810, global developmental delay |