Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
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 |