Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 |
R-numbers: R61 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 |