Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sulfite oxidase deficiency, 272300 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sulfite oxidase deficiency, OMIM:272300 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sulfite oxidase deficiency |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sulfite oxidase deficiency, 272300 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sulfite oxidase deficiency |