Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Craniofacial with neurodevelopment disorders |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay, Intellectual disability, Neurodegeneration, Epilepsy, Facial dysmorphism, Congenital anomalies |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay, Intellectual disability, Neurodegeneration, Epilepsy, Facial dysmorphism, Congenital anomalies |
Component of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay, Intellectual disability, Neurodegeneration, Epilepsy, Facial dysmorphism, Congenital anomalies |