Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R61 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 89, autosomal recessive, OMIM:620379 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AMFR-related spastic paraplegia with/without neurodevelopmental delay |