Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Component of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 23 615816 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes IMMUNODEFICIENCY 23 615816 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 23, OMIM:615816, PGM3-CDG, MONDO:0014353 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 23, 615816, Intellectual disability, Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 23 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 23 615816, Combined immunodeficiency, Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination, Combined immunodeficiencies with associated or syndromic features |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 23 615816, Immunodeficiency 23 615816 |