Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Congenital myaesthenic syndromeComponent of the following Super Panels:
R-numbers: R80 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ALG2-CDG |