Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome, Intellectual Disability |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |
R-numbers: R257 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |