Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seizures, early-onset, with neurodegeneration and brain calcification 618875 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seizures, early-onset, with neurodegeneration and brain calcification 618875 |