Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651, Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651, Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651, Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651, Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651, Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651, Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 |