Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.102 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JOUBERT SYNDROME 614615 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JOUBERT SYNDROME |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 23 616490 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly |