Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes liver failure, short stature, skeletal abnormalities, Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844 |