Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COHEN SYNDROME 193538 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COHEN SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cohen syndrome, 216550, COHEN SYNDROME |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cohen syndrome, 216550, COHEN SYNDROME |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cohen syndrome, 216550, COHEN SYNDROME |
Green in Primary immunodeficiencyR-numbers: R15 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cohen syndrome, 216550, Cohen syndrome, Dysmorphism, mental retardation, obesity, deafness, neutropenia, Congenital defects of phagocyte number or function |
Green in Retinal disordersR-numbers: R32, R33, R34, R35 Signed-off version 2.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Genetic Retinal Degeneration Conditions |
Green in Severe early-onset obesityR-numbers: R149 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Obesity, Cohen syndrome, 216550, Cohen syndrome, Truncal obesity developing in mid-childhood |