Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R57 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921, dystonia 35, childhood-onset, MONDO:0030958, Neurodevelopmental disorder with dystonia and seizures, OMIM:619922, neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921, dystonia 35, childhood-onset, MONDO:0030958, Neurodevelopmental disorder with dystonia and seizures, OMIM:619922, neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921, dystonia 35, childhood-onset, MONDO:0030958, Neurodevelopmental disorder with dystonia and seizures, OMIM:619922, neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 |