Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R56 Signed-off version 3.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920, ataxia with oculomotor apraxia type 1 MONDO:0008842 |
Component of the following Super Panels:
Signed-off version 4.40 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dystonia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ATAXIA WITH OCULOMOTOR APRAXIA 1 208920 |
R-numbers: R54 Signed-off version 4.26 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Ataxia with Oculomotor Apraxia, Early onset ataxia with oculomotor apraxia and hypoalbuminemia |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Ataxia with oculomotor apraxia 1, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920, Disorders of ubiquinone metabolism and biosynthesis |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Disorders of ubiquinone metabolism and biosynthesis, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920, Ataxia with oculomotor apraxia 1 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 |