Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.38 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy, congenital proximal, with minicore lesions, OMIM:618823, Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FXR1-related congenital myopathy |