Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CLCN6-related Developmental Disorder |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 |
Green in Neuronal ceroid lipofuscinosisR-numbers: R231 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 |