Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Band heterotopia, 600348 |
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Band heterotopia, 600348 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes congenital hydrocephalus, profound global developmental delay and intractable epilepsy, Band heterotopia, 600348 (includes severe intellectual disability) |