Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025, hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 |