Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS syndrome, 600373 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS SYNDROME 600373 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS syndrome, 600373, Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS syndrome, 600373 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS syndrome, 600373 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 |