Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity |
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 Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 |