Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30 |
R-numbers: R54 Signed-off version 4.26 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome, Intellectual Disability |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 30, 617622 |