Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560 |
R-numbers: R57 Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 |
R-numbers: R61 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Progressive Spastic Ataxia and Hypomyelination |
R-numbers: R54 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560, Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 |
Component of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560 |