Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Early-onset dystonia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NUP54-related early-onset dystonia with striatal lesions |