Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R60 Signed-off version 3.14 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia 8, autosomal dominant, OMIM:603563 |
R-numbers: R61 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia 8, autosomal dominant, OMIM:603563 |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ritscher-Schinzel syndrome 1, OMIM:220210 |