| Panel | Mode of inheritance | Details |
|---|---|---|
9 panels | ||
Component of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM2-GANGLIOSIDOSIS TYPE 2 268800 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 |
R-numbers: R78 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800, Sandhoff disease MONDO:0010006 |
R-numbers: R58 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 |