Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lysinuric protein intolerance (Disorders of amino acid transport), Lysinuric protein intolerance 222700 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lysinuric protein intolerance SLC7A7 deficiency, Severe bacterial infections, Predominantly Antibody Deficiencies, Lysinuric protein intolerance, 222700 |