PanelMode of inheritanceDetails
2 panels
R-numbers: R101
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
R-numbers: R15
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
C1r/C1s deficiency, combined, Lupus, Complement component 1 deficiency, Immunodeficiency due to a classical component pathway complement deficiency, SLE, pyogenic infections, SLE, infections with encapsulated organisms, Ehlers Danlos phenotype, Complement Deficiencies