Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, 243605 |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, OMIM:243605 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | 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 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polydactyly, Stromme syndrome 243605 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.15 | 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 3.5 | 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 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, OMIM:243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MPD, microcephalic primordial dwarfism, Stromme syndrome, 243605, Microcephaly |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, OMIM:243605, MONDO:0009477 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |