Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epileptic encephalopathy, early infantile, 46 617162 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epileptic encephalopathy, early infantile, 46, 617162, intellectual disability |