Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R56 Signed-off version 3.12 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Dystonia 30, OMIM:619291, Dystonia Associated with Lysosomal Abnormalities |
R-numbers: R57 Signed-off version 3.56 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Dystonia 30, OMIM:619291, Dystonia Associated with Lysosomal Abnormalities |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mucopolysaccharidosis-like syndrome (biallelic), Dystonia Associated with Lysosomal Abnormalities (monoallelic), Dystonia 30, OMIM:619291 |