Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome 243605 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polydactyly, Stromme syndrome 243605 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
Green in Severe microcephalyR-numbers: R88 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MPD, microcephalic primordial dwarfism, Stromme syndrome, 243605, Microcephaly |
R-numbers: R257 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |