Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Component of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719, acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719, acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 |