Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes INTESTINAL ATRESIA, MULTIPLE 243150 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes INTESTINAL ATRESIA, MULTIPLE |
R-numbers: R331 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150 |
R-numbers: R438 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150 |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150, Multiple intestinal atresia and severe combined immunodeficiency, Combined immunodeficiency, Immunodeficiencies with multiple intestinal atresias, Combined immunodeficiency-enteropathy spectrum, Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype, Combined immunodeficiencies with associated or syndromic features |